Linked Data
ClinVar Variation Id:
1202576
dbSNP Id:
rs765361868
ExAC:
13:23913254 ATGATT / A
gnomAD v2:
13-23913254-ATGATT-A
gnomAD v3:
13-23339115-ATGATT-A
gnomAD v4:
13-23339115-ATGATT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23339117_23339121del , CM000675.2:g.23339117_23339121del | GRCh38 |
| NC_000013.10:g.23913256_23913260del , CM000675.1:g.23913256_23913260del | GRCh37 |
| NC_000013.9:g.22811256_22811260del | NCBI36 |
| NG_012342.1:g.99583_99587del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682775.1:c.2185+14665_2185+14669del | ENSP00000508399.1:n.2185+14665_2185+14669... | |
| ENST00000682944.1:c.4783_4787del | ENSP00000507173.1:p.Asn1595TyrfsTer3 | |
| ENST00000683210.1:c.2185+14665_2185+14669del | ENSP00000506739.1:n.2185+14665_2185+14669... | |
| ENST00000683270.1:c.4747_4751del | ENSP00000507624.1:p.Asn1583TyrfsTer3 | |
| ENST00000683367.1:c.2177-9636_2177-9632del | ENSP00000507780.1:n.2177-9636_2177-9632de... | |
| ENST00000683489.1:c.2291+2465_2291+2469del | ENSP00000508403.1:n.2291+2465_2291+2469de... | |
| ENST00000683680.1:c.2318+2465_2318+2469del | ENSP00000507223.1:n.2318+2465_2318+2469de... | |
| ENST00000684163.1:c.2203+7691_2203+7695del | ENSP00000508262.1:n.2203+7691_2203+7695de... | |
| ENST00000684196.1:n.4543-9636_4543-9632del | ||
| ENST00000684325.1:c.2185+14665_2185+14669del | ENSP00000508121.1:n.2185+14665_2185+14669... | |
| ENST00000684385.1:c.2220+7691_2220+7695del | ENSP00000507855.1:n.2220+7691_2220+7695de... | |
| ENST00000684497.1:c.2185+14665_2185+14669del | ENSP00000507057.1:n.2185+14665_2185+14669... | |
| ENST00000382292.9:c.4756_4760del MANE Select | ENSP00000371729.3:p.Asn1586TyrfsTer3 | |
| ENST00000423156.2:c.2186-9636_2186-9632del | ENSP00000390925.2:n.2186-9636_2186-9632de... | |
| ENST00000455470.6:c.2431+2325_2431+2329del | ENSP00000406565.2:n.2431+2325_2431+2329de... | |
| ENST00000382292.7:c.4756_4760del | ENSP00000371729.3:p.Asn1586TyrfsTer3 | |
| ENST00000382298.7:c.4756_4760del | ENSP00000371735.3:p.Asn1586TyrfsTer3 | |
| ENST00000402364.1:c.2506_2510del | ENSP00000385844.1:p.Asn836TyrfsTer3 | |
| ENST00000423156.1:c.1058-9636_1058-9632del | ENSP00000390925.1:n.1058-9636_1058-9632de... | |
| ENST00000455470.5:c.2129+2325_2129+2329del | ||
| NM_001278055.1:c.4315_4319del | NP_001264984.1:p.Asn1439TyrfsTer3 | |
| NM_014363.5:c.4756_4760del | NP_055178.3:p.Asn1586TyrfsTer3 | |
| XM_005266338.1:c.4783_4787del | XP_005266395.1:p.Asn1595TyrfsTer3 | |
| XM_011535038.1:c.4807_4811del | XP_011533340.1:p.Asn1603TyrfsTer3 | |
| XM_011535039.1:c.4774_4778del | XP_011533341.1:p.Asn1592TyrfsTer3 | |
| XM_005266338.2:c.4783_4787del | XP_005266395.1:p.Asn1595TyrfsTer3 | |
| XM_011535039.2:c.4774_4778del | XP_011533341.1:p.Asn1592TyrfsTer3 | |
| XM_017020539.1:c.4747_4751del | XP_016876028.1:p.Asn1583TyrfsTer3 | |
| XM_024449337.1:c.4783_4787del | XP_024305105.1:p.Asn1595TyrfsTer3 | |
| NM_014363.6:c.4756_4760del MANE Select | NP_055178.3:p.Asn1586TyrfsTer3 | |
| NM_001278055.2:c.4315_4319del | NP_001264984.1:p.Asn1439TyrfsTer3 |