Linked Data
dbSNP Id:
rs1200316547
gnomAD v2:
X-32382877-TAAAG-T
gnomAD v3:
X-32364760-TAAAG-T
gnomAD v4:
X-32364760-TAAAG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.32364763_32364766del , CM000685.2:g.32364763_32364766del | GRCh38 |
| NC_000023.10:g.32382880_32382883del , CM000685.1:g.32382880_32382883del | GRCh37 |
| NC_000023.9:g.32292801_32292804del | NCBI36 |
| NG_012232.1:g.979846_979849del , LRG_199:g.979846_979849del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357033.9:c.5026-54_5026-51del MANE Select | ENSP00000354923.3:n.5026-54_5026-51del | |
| ENST00000619831.5:c.994-54_994-51del | ENSP00000479270.2:n.994-54_994-51del | |
| ENST00000357033.8:c.5026-54_5026-51del | ENSP00000354923.3:n.5026-54_5026-51del | |
| ENST00000378677.6:c.5014-54_5014-51del | ENSP00000367948.2:n.5014-54_5014-51del | |
| ENST00000420596.5:c.274-54_274-51del | ENSP00000399897.1:n.274-54_274-51del | |
| ENST00000448370.5:c.94-54_94-51del | ENSP00000388559.1:n.94-54_94-51del | |
| ENST00000488902.5:n.336-147701_336-147698del | ||
| ENST00000619831.4:c.5014-54_5014-51del | ENSP00000479270.1:n.5014-54_5014-51del | |
| ENST00000620040.4:c.5026-54_5026-51del | ENSP00000478150.1:n.5026-54_5026-51del | |
| NM_000109.3:c.5002-54_5002-51del | NP_000100.2:n.5002-54_5002-51del | |
| NM_004006.2:c.5026-54_5026-51del , LRG_199t1:c.5026-54_5026-51del | NP_003997.1:n.5026-54_5026-51del | |
| NM_004009.3:c.5014-54_5014-51del | NP_004000.1:n.5014-54_5014-51del | |
| NM_004010.3:c.4657-54_4657-51del | NP_004001.1:n.4657-54_4657-51del | |
| NM_004011.3:c.1003-54_1003-51del | NP_004002.2:n.1003-54_1003-51del | |
| NM_004012.3:c.994-54_994-51del | NP_004003.1:n.994-54_994-51del | |
| XM_006724468.2:c.5026-54_5026-51del | XP_006724531.1:n.5026-54_5026-51del | |
| XM_006724469.2:c.5002-54_5002-51del | XP_006724532.1:n.5002-54_5002-51del | |
| XM_006724470.2:c.5026-54_5026-51del | XP_006724533.1:n.5026-54_5026-51del | |
| XM_006724471.2:c.5026-54_5026-51del | XP_006724534.1:n.5026-54_5026-51del | |
| XM_006724472.2:c.4897-54_4897-51del | XP_006724535.1:n.4897-54_4897-51del | |
| XM_006724473.2:c.5026-54_5026-51del | XP_006724536.1:n.5026-54_5026-51del | |
| XM_006724474.2:c.5026-54_5026-51del | XP_006724537.1:n.5026-54_5026-51del | |
| XM_006724475.2:c.5026-54_5026-51del | XP_006724538.1:n.5026-54_5026-51del | |
| XM_011545467.1:c.5026-54_5026-51del | XP_011543769.1:n.5026-54_5026-51del | |
| XM_011545468.1:c.5026-54_5026-51del | XP_011543770.1:n.5026-54_5026-51del | |
| XM_011545469.1:c.5026-54_5026-51del | XP_011543771.1:n.5026-54_5026-51del | |
| XM_006724469.3:c.5002-54_5002-51del | XP_006724532.1:n.5002-54_5002-51del | |
| XM_006724470.3:c.5026-54_5026-51del | XP_006724533.1:n.5026-54_5026-51del | |
| XM_006724474.3:c.5026-54_5026-51del | XP_006724537.1:n.5026-54_5026-51del | |
| XM_011545468.2:c.5026-54_5026-51del | XP_011543770.1:n.5026-54_5026-51del | |
| XM_017029328.1:c.5026-54_5026-51del | XP_016884817.1:n.5026-54_5026-51del | |
| XM_017029329.1:c.5026-54_5026-51del | XP_016884818.1:n.5026-54_5026-51del | |
| XM_017029330.2:c.5026-54_5026-51del | XP_016884819.1:n.5026-54_5026-51del | |
| NM_000109.4:c.5002-54_5002-51del | NP_000100.3:n.5002-54_5002-51del | |
| NM_004006.3:c.5026-54_5026-51del MANE Select | NP_003997.2:n.5026-54_5026-51del | |
| NM_004011.4:c.1003-54_1003-51del | NP_004002.3:n.1003-54_1003-51del | |
| NM_004012.4:c.994-54_994-51del | NP_004003.2:n.994-54_994-51del |