Canonical Allele Identifier: CA2646644557

Gene: ABCA4

Linked Data

• gnomAD v4: 1-93995997-CTCTCTGTAGGAGGCATA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.93996001_93996017del , CM000663.2:g.93996001_93996017del	GRCh38
NC_000001.10:g.94461557_94461573del , CM000663.1:g.94461557_94461573del	GRCh37
NC_000001.9:g.94234145_94234161del	NCBI36
NG_009073.1:g.130136_130152del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6816+95_6816+111del MANE Select	ENSP00000359245.3:n.6816+95_6816+111del
ENST00000370225.3:c.6816+95_6816+111del	ENSP00000359245.3:n.6816+95_6816+111del
ENST00000536513.5:c.3192+95_3192+111del	ENSP00000439707.2:n.3192+95_3192+111del
NM_000350.2:c.6816+95_6816+111del	NP_000341.2:n.6816+95_6816+111del
NM_000350.3:c.6816+95_6816+111del MANE Select	NP_000341.2:n.6816+95_6816+111del