Canonical Allele Identifier: CA2744617518

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041524_94041525del , CM000663.2:g.94041524_94041525del	GRCh38
NC_000001.10:g.94507080_94507081del , CM000663.1:g.94507080_94507081del	GRCh37
NC_000001.9:g.94279668_94279669del	NCBI36
NG_009073.1:g.84625_84626del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3329-123_3329-122del MANE Select	ENSP00000359245.3:n.3329-123_3329-122del
ENST00000370225.3:c.3329-123_3329-122del	ENSP00000359245.3:n.3329-123_3329-122del
ENST00000536513.5:c.-64-1436_-64-1435del	ENSP00000439707.2:n.-64-1436_-64-1435del
NM_000350.2:c.3329-123_3329-122del	NP_000341.2:n.3329-123_3329-122del
NM_000350.3:c.3329-123_3329-122del MANE Select	NP_000341.2:n.3329-123_3329-122del