Canonical Allele Identifier: CA2685107471

Gene: AKR1D1

Linked Data

• gnomAD v4: 7-138091873-ATGGCCTTTAAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138091874_138091884del , CM000669.2:g.138091874_138091884del	GRCh38
NC_000007.13:g.137776620_137776630del , CM000669.1:g.137776620_137776630del	GRCh37
NC_000007.12:g.137427160_137427170del	NCBI36
NG_023342.1:g.20443_20453del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242375.8:c.368_378del MANE Select	ENSP00000242375.3:p.Met123ThrfsTer4
ENST00000242375.7:c.368_378del	ENSP00000242375.3:p.Met123ThrfsTer4
ENST00000411726.6:c.368_378del	ENSP00000402374.2:p.Met123ThrfsTer4
ENST00000432161.5:c.368_378del	ENSP00000389197.1:p.Met123ThrfsTer4
ENST00000438242.1:c.200_210del	ENSP00000397042.1:p.Met67ThrfsTer4
ENST00000468877.2:n.278_288del
ENST00000470851.1:n.32_42del
NM_001190906.1:c.368_378del	NP_001177835.1:p.Met123ThrfsTer4
NM_001190907.1:c.368_378del	NP_001177836.1:p.Met123ThrfsTer4
NM_005989.3:c.368_378del	NP_005980.1:p.Met123ThrfsTer4
NM_005989.4:c.368_378del MANE Select	NP_005980.1:p.Met123ThrfsTer4
NM_001190906.2:c.368_378del	NP_001177835.1:p.Met123ThrfsTer4
NM_001190907.2:c.368_378del	NP_001177836.1:p.Met123ThrfsTer4