Canonical Allele Identifier: CA2690019382
Gene: ALDH1B1 HGNC NCBI

Linked Data

gnomAD v4: 9-38396969-G-GGA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396970_38396971dup , CM000671.2:g.38396970_38396971dup GRCh38
NC_000009.11:g.38396967_38396968dup , CM000671.1:g.38396967_38396968dup GRCh37
NC_000009.10:g.38386967_38386968dup NCBI36
NG_012253.1:g.9266_9267dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.1222_1223dup MANE Select ENSP00000366927.3:p.Asp408GlufsTer4
ENST00000377698.3:c.1222_1223dup ENSP00000366927.3:p.Asp408GlufsTer4
NM_000692.4:c.1222_1223dup NP_000683.3:p.Asp408GlufsTer4
XM_011517802.1:c.1222_1223dup XP_011516104.1:p.Asp408GlufsTer4
XM_011517802.2:c.1222_1223dup XP_011516104.1:p.Asp408GlufsTer4
NM_000692.5:c.1222_1223dup MANE Select NP_000683.3:p.Asp408GlufsTer4
Search 100 bp 5'
Search 100 bp 3'