Linked Data
dbSNP Id:
rs60269500
gnomAD v2:
5-53300619-C-CTGTGTG
gnomAD v3:
5-54004789-C-CTGTGTG
gnomAD v4:
5-54004789-C-CTGTGTG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.54004803_54004808dup , CM000667.2:g.54004803_54004808dup | GRCh38 |
| NC_000005.9:g.53300633_53300638dup , CM000667.1:g.53300633_53300638dup | GRCh37 |
| NC_000005.8:g.53336390_53336395dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000504924.6:c.462+108407_462+108412dup MANE Select | ENSP00000433427.1:n.462+108407_462+108412... | |
| ENST00000502271.5:c.-76+108407_-76+108412dup | ENSP00000473508.1:n.-76+108407_-76+108412... | |
| ENST00000504924.5:c.462+108407_462+108412dup | ENSP00000433427.1:n.462+108407_462+108412... | |
| ENST00000507646.2:c.462+108407_462+108412dup | ENSP00000432680.1:n.462+108407_462+108412... | |
| ENST00000510591.6:n.535+108407_535+108412dup | ||
| ENST00000620747.4:c.468+62367_468+62372dup | ENSP00000478984.1:n.468+62367_468+62372du... | |
| NM_019087.2:c.462+108407_462+108412dup | NP_061960.1:n.462+108407_462+108412dup | |
| XM_011543498.1:c.645+108407_645+108412dup | XP_011541800.1:n.645+108407_645+108412dup... | |
| XM_011543499.1:c.588+108407_588+108412dup | XP_011541801.1:n.588+108407_588+108412dup... | |
| XM_011543500.1:c.519+108407_519+108412dup | XP_011541802.1:n.519+108407_519+108412dup... | |
| XM_011543498.2:c.645+108407_645+108412dup | XP_011541800.1:n.645+108407_645+108412dup... | |
| XM_011543499.2:c.588+108407_588+108412dup | XP_011541801.1:n.588+108407_588+108412dup... | |
| XM_011543500.2:c.519+108407_519+108412dup | XP_011541802.1:n.519+108407_519+108412dup... | |
| XM_017009598.1:c.468+108407_468+108412dup | XP_016865087.1:n.468+108407_468+108412dup... | |
| NM_019087.3:c.462+108407_462+108412dup MANE Select | NP_061960.1:n.462+108407_462+108412dup |