Linked Data
dbSNP Id:
rs747118532
ExAC:
X:32472769 T / TG
gnomAD v2:
X-32472769-T-TG
gnomAD v4:
X-32454652-T-TG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.32454652_32454653insG , CM000685.2:g.32454652_32454653insG | GRCh38 |
| NC_000023.10:g.32472769_32472770insG , CM000685.1:g.32472769_32472770insG | GRCh37 |
| NC_000023.9:g.32382690_32382691insG | NCBI36 |
| NG_012232.1:g.889957_889958insC , LRG_199:g.889957_889958insC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682899.1:n.3810+9_3810+10insC | ||
| ENST00000357033.9:c.3603+9_3603+10insC MANE Select | ENSP00000354923.3:n.3603+9_3603+10insC | |
| ENST00000357033.8:c.3603+9_3603+10insC | ENSP00000354923.3:n.3603+9_3603+10insC | |
| ENST00000378677.6:c.3591+9_3591+10insC | ENSP00000367948.2:n.3591+9_3591+10insC | |
| ENST00000420596.5:c.94-89454_94-89453insC | ENSP00000399897.1:n.94-89454_94-89453insC | |
| ENST00000448370.5:c.94-89943_94-89942insC | ENSP00000388559.1:n.94-89943_94-89942insC | |
| ENST00000488902.5:n.336-237590_336-237589insC | ||
| ENST00000619831.4:c.3591+9_3591+10insC | ENSP00000479270.1:n.3591+9_3591+10insC | |
| ENST00000620040.4:c.3603+9_3603+10insC | ENSP00000478150.1:n.3603+9_3603+10insC | |
| NM_000109.3:c.3579+9_3579+10insC | NP_000100.2:n.3579+9_3579+10insC | |
| NM_004006.2:c.3603+9_3603+10insC , LRG_199t1:c.3603+9_3603+10insC | NP_003997.1:n.3603+9_3603+10insC | |
| NM_004009.3:c.3591+9_3591+10insC | NP_004000.1:n.3591+9_3591+10insC | |
| NM_004010.3:c.3234+9_3234+10insC | NP_004001.1:n.3234+9_3234+10insC | |
| XM_006724468.2:c.3603+9_3603+10insC | XP_006724531.1:n.3603+9_3603+10insC | |
| XM_006724469.2:c.3579+9_3579+10insC | XP_006724532.1:n.3579+9_3579+10insC | |
| XM_006724470.2:c.3603+9_3603+10insC | XP_006724533.1:n.3603+9_3603+10insC | |
| XM_006724471.2:c.3603+9_3603+10insC | XP_006724534.1:n.3603+9_3603+10insC | |
| XM_006724472.2:c.3474+9_3474+10insC | XP_006724535.1:n.3474+9_3474+10insC | |
| XM_006724473.2:c.3603+9_3603+10insC | XP_006724536.1:n.3603+9_3603+10insC | |
| XM_006724474.2:c.3603+9_3603+10insC | XP_006724537.1:n.3603+9_3603+10insC | |
| XM_006724475.2:c.3603+9_3603+10insC | XP_006724538.1:n.3603+9_3603+10insC | |
| XM_011545467.1:c.3603+9_3603+10insC | XP_011543769.1:n.3603+9_3603+10insC | |
| XM_011545468.1:c.3603+9_3603+10insC | XP_011543770.1:n.3603+9_3603+10insC | |
| XM_011545469.1:c.3603+9_3603+10insC | XP_011543771.1:n.3603+9_3603+10insC | |
| XM_006724469.3:c.3579+9_3579+10insC | XP_006724532.1:n.3579+9_3579+10insC | |
| XM_006724470.3:c.3603+9_3603+10insC | XP_006724533.1:n.3603+9_3603+10insC | |
| XM_006724474.3:c.3603+9_3603+10insC | XP_006724537.1:n.3603+9_3603+10insC | |
| XM_011545468.2:c.3603+9_3603+10insC | XP_011543770.1:n.3603+9_3603+10insC | |
| XM_017029328.1:c.3603+9_3603+10insC | XP_016884817.1:n.3603+9_3603+10insC | |
| XM_017029329.1:c.3603+9_3603+10insC | XP_016884818.1:n.3603+9_3603+10insC | |
| XM_017029330.2:c.3603+9_3603+10insC | XP_016884819.1:n.3603+9_3603+10insC | |
| NM_000109.4:c.3579+9_3579+10insC | NP_000100.3:n.3579+9_3579+10insC | |
| NM_004006.3:c.3603+9_3603+10insC MANE Select | NP_003997.2:n.3603+9_3603+10insC |