Canonical Allele Identifier: CA4502636

Gene: AKR1D1

Linked Data

• dbSNP Id: rs746120690
• ExAC: 7:137776499 CTT / C
• gnomAD v2: 7-137776499-CTT-C
• gnomAD v3: 7-138091753-CTT-C
• gnomAD v4: 7-138091753-CTT-C
• MyVariant Identifiers: chr7:g.137776500_137776501del (hg19) ; chr7:g.138091754_138091755del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138091755_138091756del , CM000669.2:g.138091755_138091756del	GRCh38
NC_000007.13:g.137776501_137776502del , CM000669.1:g.137776501_137776502del	GRCh37
NC_000007.12:g.137427041_137427042del	NCBI36
NG_023342.1:g.20324_20325del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242375.8:c.262-13_262-12del MANE Select	ENSP00000242375.3:n.262-13_262-12del
ENST00000242375.7:c.262-13_262-12del	ENSP00000242375.3:n.262-13_262-12del
ENST00000411726.6:c.262-13_262-12del	ENSP00000402374.2:n.262-13_262-12del
ENST00000432161.5:c.262-13_262-12del	ENSP00000389197.1:n.262-13_262-12del
ENST00000438242.1:c.94-13_94-12del	ENSP00000397042.1:n.94-13_94-12del
ENST00000468877.2:n.222-63_222-62del
NM_001190906.1:c.262-13_262-12del	NP_001177835.1:n.262-13_262-12del
NM_001190907.1:c.262-13_262-12del	NP_001177836.1:n.262-13_262-12del
NM_005989.3:c.262-13_262-12del	NP_005980.1:n.262-13_262-12del
NM_005989.4:c.262-13_262-12del MANE Select	NP_005980.1:n.262-13_262-12del
NM_001190906.2:c.262-13_262-12del	NP_001177835.1:n.262-13_262-12del
NM_001190907.2:c.262-13_262-12del	NP_001177836.1:n.262-13_262-12del