Canonical Allele Identifier: CA2646649012

Gene: ABCA4

Linked Data

• gnomAD v4: 1-94041513-TAAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041522_94041524del , CM000663.2:g.94041522_94041524del	GRCh38
NC_000001.10:g.94507078_94507080del , CM000663.1:g.94507078_94507080del	GRCh37
NC_000001.9:g.94279666_94279668del	NCBI36
NG_009073.1:g.84634_84636del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3329-114_3329-112del MANE Select	ENSP00000359245.3:n.3329-114_3329-112del
ENST00000370225.3:c.3329-114_3329-112del	ENSP00000359245.3:n.3329-114_3329-112del
ENST00000536513.5:c.-64-1427_-64-1425del	ENSP00000439707.2:n.-64-1427_-64-1425del
NM_000350.2:c.3329-114_3329-112del	NP_000341.2:n.3329-114_3329-112del
NM_000350.3:c.3329-114_3329-112del MANE Select	NP_000341.2:n.3329-114_3329-112del