Linked Data
dbSNP Id:
rs1489711400
gnomAD v2:
7-92140335-C-CTA
gnomAD v3:
7-92511021-C-CTA
gnomAD v4:
7-92511021-C-CTA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92511024_92511025dup , CM000669.2:g.92511024_92511025dup | GRCh38 |
| NC_000007.13:g.92140338_92140339dup , CM000669.1:g.92140338_92140339dup | GRCh37 |
| NC_000007.12:g.91978274_91978275dup | NCBI36 |
| NG_008341.1:g.22509_22510dup | |
| NG_008341.2:g.22509_22510dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.1508_1509dup MANE Select | ENSP00000248633.4:p.Val504Ter | |
| ENST00000248633.8:c.1508_1509dup | ENSP00000248633.4:p.Val504Ter | |
| ENST00000422866.1:c.409_410dup | ||
| ENST00000428214.5:c.1508_1509dup | ENSP00000394413.1:p.Val504Ter | |
| ENST00000438045.5:c.542_543dup | ENSP00000410438.1:p.Val182Ter | |
| ENST00000476923.1:n.269_270dup | ||
| ENST00000484913.5:n.1547_1548dup | ||
| NM_000466.2:c.1508_1509dup | NP_000457.1:p.Val504Ter | |
| NM_001282677.1:c.1508_1509dup | NP_001269606.1:p.Val504Ter | |
| NM_001282678.1:c.884_885dup | NP_001269607.1:p.Val296Ter | |
| XM_005250433.3:c.-159_-158dup | XP_005250490.1:n.-159_-158dup | |
| XR_242246.3:n.1604_1605dup | ||
| XM_017012319.2:c.-159_-158dup | XP_016867808.1:n.-159_-158dup | |
| XR_001744808.2:n.618_619dup | ||
| XR_242246.5:n.1555_1556dup | ||
| NM_000466.3:c.1508_1509dup MANE Select | NP_000457.1:p.Val504Ter | |
| NM_001282677.2:c.1508_1509dup | NP_001269606.1:p.Val504Ter | |
| NM_001282678.2:c.884_885dup | NP_001269607.1:p.Val296Ter |