Linked Data
dbSNP Id:
rs780664572
gnomAD v2:
X-31279168-T-TTGTCTAAAGTCTTGACTAC
gnomAD v4:
X-31261051-T-TTGTCTAAAGTCTTGACTAC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.31261052_31261053insGTCTAAAGTCTTGACTACT , CM000685.2:g.31261052_31261053insGTCTAAAGTCTTGACTACT | GRCh38 |
| NC_000023.10:g.31279169_31279170insGTCTAAAGTCTTGACTACT , CM000685.1:g.31279169_31279170insGTCTAAAGTCTTGACTACT | GRCh37 |
| NC_000023.9:g.31189090_31189091insGTCTAAAGTCTTGACTACT | NCBI36 |
| NG_012232.1:g.2083558_2083559insGTAGTCAAGACTTTAGACA , LRG_199:g.2083558_2083559insGTAGTCAAGACTTTAGACA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.4071-36_4071-35insGTAGTCAAGACTTTAGACA | ENSP00000350765.3:n.4071-36_4071-35insGTAGTCAAGACTTTAGACA | |
| ENST00000680162.2:c.21-36_21-35insGTAGTCAAGACTTTAGACA | ENSP00000506634.2:n.21-36_21-35insGTAGTCAAGACTTTAGACA | |
| ENST00000680768.2:c.21-36_21-35insGTAGTCAAGACTTTAGACA | ENSP00000506359.2:n.21-36_21-35insGTAGTCAAGACTTTAGACA | |
| ENST00000682238.1:c.1845-36_1845-35insGTAGTCAAGACTTTAGACA | ENSP00000508124.1:n.1845-36_1845-35insGTAGTCAAGACTTTAGACA | |
| ENST00000682322.1:c.21-36_21-35insGTAGTCAAGACTTTAGACA | ENSP00000507690.1:n.21-36_21-35insGTAGTCAAGACTTTAGACA | |
| ENST00000682600.1:c.21-36_21-35insGTAGTCAAGACTTTAGACA | ENSP00000507640.1:n.21-36_21-35insGTAGTCAAGACTTTAGACA | |
| ENST00000683509.1:n.742-36_742-35insGTAGTCAAGACTTTAGACA | ||
| ENST00000683675.1:n.324-36_324-35insGTAGTCAAGACTTTAGACA | ||
| ENST00000683709.1:n.743-36_743-35insGTAGTCAAGACTTTAGACA | ||
| ENST00000683957.1:n.2717-36_2717-35insGTAGTCAAGACTTTAGACA | ||
| ENST00000684130.1:c.1845-36_1845-35insGTAGTCAAGACTTTAGACA | ENSP00000508037.1:n.1845-36_1845-35insGTAGTCAAGACTTTAGACA | |
| ENST00000343523.7:c.1080-36_1080-35insGTAGTCAAGACTTTAGACA | ENSP00000340057.4:n.1080-36_1080-35insGTAGTCAAGACTTTAGACA | |
| ENST00000357033.9:c.9225-36_9225-35insGTAGTCAAGACTTTAGACA MANE Select | ENSP00000354923.3:n.9225-36_9225-35insGTAGTCAAGACTTTAGACA | |
| ENST00000619831.5:c.5193-36_5193-35insGTAGTCAAGACTTTAGACA | ENSP00000479270.2:n.5193-36_5193-35insGTAGTCAAGACTTTAGACA | |
| ENST00000620040.5:c.1845-36_1845-35insGTAGTCAAGACTTTAGACA | ENSP00000478150.2:n.1845-36_1845-35insGTAGTCAAGACTTTAGACA | |
| ENST00000679641.1:c.21-36_21-35insGTAGTCAAGACTTTAGACA | ENSP00000506135.1:n.21-36_21-35insGTAGTCAAGACTTTAGACA | |
| ENST00000680355.1:c.21-36_21-35insGTAGTCAAGACTTTAGACA | ENSP00000506257.1:n.21-36_21-35insGTAGTCAAGACTTTAGACA | |
| ENST00000680557.1:c.21-36_21-35insGTAGTCAAGACTTTAGACA | ENSP00000505164.1:n.21-36_21-35insGTAGTCAAGACTTTAGACA | |
| ENST00000680768.1:c.-37-36_-37-35insGTAGTCAAGACTTTAGACA | ENSP00000506359.1:n.-37-36_-37-35insGTAGTCAAGACTTTAGACA | |
| ENST00000680961.1:c.1845-36_1845-35insGTAGTCAAGACTTTAGACA | ENSP00000506386.1:n.1845-36_1845-35insGTAGTCAAGACTTTAGACA | |
| ENST00000681153.1:c.21-36_21-35insGTAGTCAAGACTTTAGACA | ENSP00000505124.1:n.21-36_21-35insGTAGTCAAGACTTTAGACA | |
| ENST00000681334.1:c.21-36_21-35insGTAGTCAAGACTTTAGACA | ENSP00000506066.1:n.21-36_21-35insGTAGTCAAGACTTTAGACA | |
| ENST00000681646.1:n.2886-36_2886-35insGTAGTCAAGACTTTAGACA | ||
| ENST00000681654.1:n.155-36_155-35insGTAGTCAAGACTTTAGACA | ||
| ENST00000681870.1:c.21-36_21-35insGTAGTCAAGACTTTAGACA | ENSP00000506709.1:n.21-36_21-35insGTAGTCAAGACTTTAGACA | |
| ENST00000343523.6:c.1038-36_1038-35insGTAGTCAAGACTTTAGACA | ENSP00000340057.3:n.1038-36_1038-35insGTAGTCAAGACTTTAGACA | |
| ENST00000357033.8:c.9225-36_9225-35insGTAGTCAAGACTTTAGACA | ENSP00000354923.3:n.9225-36_9225-35insGTAGTCAAGACTTTAGACA | |
| ENST00000358062.6:c.2313-36_2313-35insGTAGTCAAGACTTTAGACA | ENSP00000350765.2:n.2313-36_2313-35insGTAGTCAAGACTTTAGACA | |
| ENST00000359836.5:c.1845-36_1845-35insGTAGTCAAGACTTTAGACA | ENSP00000352894.1:n.1845-36_1845-35insGTAGTCAAGACTTTAGACA | |
| ENST00000361471.8:c.21-36_21-35insGTAGTCAAGACTTTAGACA | ENSP00000354464.4:n.21-36_21-35insGTAGTCAAGACTTTAGACA | |
| ENST00000378677.6:c.9213-36_9213-35insGTAGTCAAGACTTTAGACA | ENSP00000367948.2:n.9213-36_9213-35insGTAGTCAAGACTTTAGACA | |
| ENST00000378680.6:c.21-36_21-35insGTAGTCAAGACTTTAGACA | ENSP00000367951.2:n.21-36_21-35insGTAGTCAAGACTTTAGACA | |
| ENST00000378702.8:c.21-36_21-35insGTAGTCAAGACTTTAGACA | ENSP00000367974.4:n.21-36_21-35insGTAGTCAAGACTTTAGACA | |
| ENST00000378707.7:c.1845-36_1845-35insGTAGTCAAGACTTTAGACA | ENSP00000367979.3:n.1845-36_1845-35insGTAGTCAAGACTTTAGACA | |
| ENST00000378723.7:c.21-36_21-35insGTAGTCAAGACTTTAGACA | ENSP00000367997.3:n.21-36_21-35insGTAGTCAAGACTTTAGACA | |
| ENST00000469142.1:n.244-36_244-35insGTAGTCAAGACTTTAGACA | ||
| ENST00000474231.5:c.1845-36_1845-35insGTAGTCAAGACTTTAGACA | ENSP00000417123.1:n.1845-36_1845-35insGTAGTCAAGACTTTAGACA | |
| ENST00000541735.5:c.1845-36_1845-35insGTAGTCAAGACTTTAGACA | ENSP00000444119.1:n.1845-36_1845-35insGTAGTCAAGACTTTAGACA | |
| ENST00000619831.4:c.9210-36_9210-35insGTAGTCAAGACTTTAGACA | ENSP00000479270.1:n.9210-36_9210-35insGTAGTCAAGACTTTAGACA | |
| ENST00000620040.4:c.9222-36_9222-35insGTAGTCAAGACTTTAGACA | ENSP00000478150.1:n.9222-36_9222-35insGTAGTCAAGACTTTAGACA | |
| NM_000109.3:c.9201-36_9201-35insGTAGTCAAGACTTTAGACA | NP_000100.2:n.9201-36_9201-35insGTAGTCAAGACTTTAGACA | |
| NM_004006.2:c.9225-36_9225-35insGTAGTCAAGACTTTAGACA , LRG_199t1:c.9225-36_9225-35insGTAGTCAAGACTTTAGACA | NP_003997.1:n.9225-36_9225-35insGTAGTCAAGACTTTAGACA | |
| NM_004009.3:c.9213-36_9213-35insGTAGTCAAGACTTTAGACA | NP_004000.1:n.9213-36_9213-35insGTAGTCAAGACTTTAGACA | |
| NM_004010.3:c.8856-36_8856-35insGTAGTCAAGACTTTAGACA | NP_004001.1:n.8856-36_8856-35insGTAGTCAAGACTTTAGACA | |
| NM_004011.3:c.5202-36_5202-35insGTAGTCAAGACTTTAGACA | NP_004002.2:n.5202-36_5202-35insGTAGTCAAGACTTTAGACA | |
| NM_004012.3:c.5193-36_5193-35insGTAGTCAAGACTTTAGACA | NP_004003.1:n.5193-36_5193-35insGTAGTCAAGACTTTAGACA | |
| NM_004013.2:c.1845-36_1845-35insGTAGTCAAGACTTTAGACA | NP_004004.1:n.1845-36_1845-35insGTAGTCAAGACTTTAGACA | |
| NM_004014.2:c.1038-36_1038-35insGTAGTCAAGACTTTAGACA | NP_004005.1:n.1038-36_1038-35insGTAGTCAAGACTTTAGACA | |
| NM_004015.2:c.21-36_21-35insGTAGTCAAGACTTTAGACA | NP_004006.1:n.21-36_21-35insGTAGTCAAGACTTTAGACA | |
| NM_004016.2:c.21-36_21-35insGTAGTCAAGACTTTAGACA | NP_004007.1:n.21-36_21-35insGTAGTCAAGACTTTAGACA | |
| NM_004017.2:c.21-36_21-35insGTAGTCAAGACTTTAGACA | NP_004008.1:n.21-36_21-35insGTAGTCAAGACTTTAGACA | |
| NM_004018.2:c.21-36_21-35insGTAGTCAAGACTTTAGACA | NP_004009.1:n.21-36_21-35insGTAGTCAAGACTTTAGACA | |
| NM_004019.2:c.21-36_21-35insGTAGTCAAGACTTTAGACA | NP_004010.1:n.21-36_21-35insGTAGTCAAGACTTTAGACA | |
| NM_004020.3:c.1845-36_1845-35insGTAGTCAAGACTTTAGACA | NP_004011.2:n.1845-36_1845-35insGTAGTCAAGACTTTAGACA | |
| NM_004021.2:c.1845-36_1845-35insGTAGTCAAGACTTTAGACA | NP_004012.1:n.1845-36_1845-35insGTAGTCAAGACTTTAGACA | |
| NM_004022.2:c.1845-36_1845-35insGTAGTCAAGACTTTAGACA | NP_004013.1:n.1845-36_1845-35insGTAGTCAAGACTTTAGACA | |
| NM_004023.2:c.1845-36_1845-35insGTAGTCAAGACTTTAGACA | NP_004014.1:n.1845-36_1845-35insGTAGTCAAGACTTTAGACA | |
| XM_006724468.2:c.9225-36_9225-35insGTAGTCAAGACTTTAGACA | XP_006724531.1:n.9225-36_9225-35insGTAGTCAAGACTTTAGACA | |
| XM_006724469.2:c.9201-36_9201-35insGTAGTCAAGACTTTAGACA | XP_006724532.1:n.9201-36_9201-35insGTAGTCAAGACTTTAGACA | |
| XM_006724470.2:c.9225-36_9225-35insGTAGTCAAGACTTTAGACA | XP_006724533.1:n.9225-36_9225-35insGTAGTCAAGACTTTAGACA | |
| XM_006724471.2:c.9225-36_9225-35insGTAGTCAAGACTTTAGACA | XP_006724534.1:n.9225-36_9225-35insGTAGTCAAGACTTTAGACA | |
| XM_006724472.2:c.9096-36_9096-35insGTAGTCAAGACTTTAGACA | XP_006724535.1:n.9096-36_9096-35insGTAGTCAAGACTTTAGACA | |
| XM_006724473.2:c.9087-36_9087-35insGTAGTCAAGACTTTAGACA | XP_006724536.1:n.9087-36_9087-35insGTAGTCAAGACTTTAGACA | |
| XM_006724474.2:c.9225-36_9225-35insGTAGTCAAGACTTTAGACA | XP_006724537.1:n.9225-36_9225-35insGTAGTCAAGACTTTAGACA | |
| XM_006724475.2:c.9225-36_9225-35insGTAGTCAAGACTTTAGACA | XP_006724538.1:n.9225-36_9225-35insGTAGTCAAGACTTTAGACA | |
| XM_011545467.1:c.9102-36_9102-35insGTAGTCAAGACTTTAGACA | XP_011543769.1:n.9102-36_9102-35insGTAGTCAAGACTTTAGACA | |
| XM_011545468.1:c.9225-36_9225-35insGTAGTCAAGACTTTAGACA | XP_011543770.1:n.9225-36_9225-35insGTAGTCAAGACTTTAGACA | |
| XM_006724469.3:c.9201-36_9201-35insGTAGTCAAGACTTTAGACA | XP_006724532.1:n.9201-36_9201-35insGTAGTCAAGACTTTAGACA | |
| XM_006724470.3:c.9225-36_9225-35insGTAGTCAAGACTTTAGACA | XP_006724533.1:n.9225-36_9225-35insGTAGTCAAGACTTTAGACA | |
| XM_006724474.3:c.9225-36_9225-35insGTAGTCAAGACTTTAGACA | XP_006724537.1:n.9225-36_9225-35insGTAGTCAAGACTTTAGACA | |
| XM_011545468.2:c.9225-36_9225-35insGTAGTCAAGACTTTAGACA | XP_011543770.1:n.9225-36_9225-35insGTAGTCAAGACTTTAGACA | |
| XM_017029328.1:c.9225-36_9225-35insGTAGTCAAGACTTTAGACA | XP_016884817.1:n.9225-36_9225-35insGTAGTCAAGACTTTAGACA | |
| XM_017029331.1:c.3399-36_3399-35insGTAGTCAAGACTTTAGACA | XP_016884820.1:n.3399-36_3399-35insGTAGTCAAGACTTTAGACA | |
| NM_000109.4:c.9201-36_9201-35insGTAGTCAAGACTTTAGACA | NP_000100.3:n.9201-36_9201-35insGTAGTCAAGACTTTAGACA | |
| NM_004006.3:c.9225-36_9225-35insGTAGTCAAGACTTTAGACA MANE Select | NP_003997.2:n.9225-36_9225-35insGTAGTCAAGACTTTAGACA | |
| NM_004011.4:c.5202-36_5202-35insGTAGTCAAGACTTTAGACA | NP_004002.3:n.5202-36_5202-35insGTAGTCAAGACTTTAGACA | |
| NM_004012.4:c.5193-36_5193-35insGTAGTCAAGACTTTAGACA | NP_004003.2:n.5193-36_5193-35insGTAGTCAAGACTTTAGACA | |
| NM_004015.3:c.21-36_21-35insGTAGTCAAGACTTTAGACA | NP_004006.1:n.21-36_21-35insGTAGTCAAGACTTTAGACA | |
| NM_004016.3:c.21-36_21-35insGTAGTCAAGACTTTAGACA | NP_004007.1:n.21-36_21-35insGTAGTCAAGACTTTAGACA | |
| NM_004017.3:c.21-36_21-35insGTAGTCAAGACTTTAGACA | NP_004008.1:n.21-36_21-35insGTAGTCAAGACTTTAGACA | |
| NM_004018.3:c.21-36_21-35insGTAGTCAAGACTTTAGACA | NP_004009.1:n.21-36_21-35insGTAGTCAAGACTTTAGACA | |
| NM_004019.3:c.21-36_21-35insGTAGTCAAGACTTTAGACA | NP_004010.1:n.21-36_21-35insGTAGTCAAGACTTTAGACA | |
| NM_004021.3:c.1845-36_1845-35insGTAGTCAAGACTTTAGACA | NP_004012.2:n.1845-36_1845-35insGTAGTCAAGACTTTAGACA | |
| NM_004023.3:c.1845-36_1845-35insGTAGTCAAGACTTTAGACA | NP_004014.2:n.1845-36_1845-35insGTAGTCAAGACTTTAGACA | |
| NM_004013.3:c.1845-36_1845-35insGTAGTCAAGACTTTAGACA | NP_004004.2:n.1845-36_1845-35insGTAGTCAAGACTTTAGACA | |
| NM_004014.3:c.1038-36_1038-35insGTAGTCAAGACTTTAGACA | NP_004005.2:n.1038-36_1038-35insGTAGTCAAGACTTTAGACA | |
| NM_004020.4:c.1845-36_1845-35insGTAGTCAAGACTTTAGACA | NP_004011.3:n.1845-36_1845-35insGTAGTCAAGACTTTAGACA | |
| NM_004022.3:c.1845-36_1845-35insGTAGTCAAGACTTTAGACA | NP_004013.2:n.1845-36_1845-35insGTAGTCAAGACTTTAGACA |