Linked Data
ClinVar Variation Id:
370689
dbSNP Id:
rs1057516689
gnomAD v3:
13-23336736-AT-A
gnomAD v4:
13-23336736-AT-A
PubMed:
PMID:8472930
PMID:10655055
PMID:11788093
PMID:12873855
PMID:14718708
PMID:15985586
PMID:16007637
PMID:16961075
PMID:17683082
PMID:17846221
PMID:18465152
PMID:19208651
PMID:20876471
PMID:21450511
PMID:22441213
PMID:22751902
PMID:23280630
PMID:23497566
PMID:25401298
PMID:26288984
PMID:27871429
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23336741del , CM000675.2:g.23336741del | GRCh38 |
| NC_000013.10:g.23910880del , CM000675.1:g.23910880del | GRCh37 |
| NC_000013.9:g.22808880del | NCBI36 |
| NG_012342.1:g.101966del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682775.1:c.2185+17048del | ENSP00000508399.1:n.2185+17048del | |
| ENST00000682944.1:c.7166del | ENSP00000507173.1:p.Asn2389IlefsTer12 | |
| ENST00000683210.1:c.2185+17048del | ENSP00000506739.1:n.2185+17048del | |
| ENST00000683270.1:c.6445+685del | ENSP00000507624.1:n.6445+685del | |
| ENST00000683367.1:c.2177-7253del | ENSP00000507780.1:n.2177-7253del | |
| ENST00000683489.1:c.2291+4848del | ENSP00000508403.1:n.2291+4848del | |
| ENST00000683680.1:c.2318+4848del | ENSP00000507223.1:n.2318+4848del | |
| ENST00000684163.1:c.2204-7253del | ENSP00000508262.1:n.2204-7253del | |
| ENST00000684196.1:n.4543-7253del | ||
| ENST00000684325.1:c.2186-15063del | ENSP00000508121.1:n.2186-15063del | |
| ENST00000684385.1:c.2221-7253del | ENSP00000507855.1:n.2221-7253del | |
| ENST00000684497.1:c.2186-14093del | ENSP00000507057.1:n.2186-14093del | |
| ENST00000382292.9:c.7139del MANE Select | ENSP00000371729.3:p.Asn2380IlefsTer12 | |
| ENST00000423156.2:c.2186-7253del | ENSP00000390925.2:n.2186-7253del | |
| ENST00000455470.6:c.2431+4708del | ENSP00000406565.2:n.2431+4708del | |
| ENST00000382292.7:c.7139del | ENSP00000371729.3:p.Asn2380IlefsTer12 | |
| ENST00000382298.7:c.7139del | ENSP00000371735.3:p.Asn2380IlefsTer12 | |
| ENST00000402364.1:c.4889del | ENSP00000385844.1:p.Asn1630IlefsTer12 | |
| ENST00000423156.1:c.1058-7253del | ENSP00000390925.1:n.1058-7253del | |
| ENST00000455470.5:c.2129+4708del | ||
| NM_001278055.1:c.6698del | NP_001264984.1:p.Asn2233IlefsTer12 | |
| NM_014363.5:c.7139del | NP_055178.3:p.Asn2380IlefsTer12 | |
| XM_005266338.1:c.7166del | XP_005266395.1:p.Asn2389IlefsTer12 | |
| XM_011535038.1:c.7190del | XP_011533340.1:p.Asn2397IlefsTer12 | |
| XM_011535039.1:c.7157del | XP_011533341.1:p.Asn2386IlefsTer12 | |
| XM_005266338.2:c.7166del | XP_005266395.1:p.Asn2389IlefsTer12 | |
| XM_011535039.2:c.7157del | XP_011533341.1:p.Asn2386IlefsTer12 | |
| XM_017020539.1:c.7130del | XP_016876028.1:p.Asn2377IlefsTer12 | |
| XM_024449337.1:c.7166del | XP_024305105.1:p.Asn2389IlefsTer12 | |
| NM_014363.6:c.7139del MANE Select | NP_055178.3:p.Asn2380IlefsTer12 | |
| NM_001278055.2:c.6698del | NP_001264984.1:p.Asn2233IlefsTer12 |