Canonical Allele Identifier: CA2744617522

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041526_94041528del , CM000663.2:g.94041526_94041528del	GRCh38
NC_000001.10:g.94507082_94507084del , CM000663.1:g.94507082_94507084del	GRCh37
NC_000001.9:g.94279670_94279672del	NCBI36
NG_009073.1:g.84622_84624del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3329-126_3329-124del MANE Select	ENSP00000359245.3:n.3329-126_3329-124del
ENST00000370225.3:c.3329-126_3329-124del	ENSP00000359245.3:n.3329-126_3329-124del
ENST00000536513.5:c.-64-1439_-64-1437del	ENSP00000439707.2:n.-64-1439_-64-1437del
NM_000350.2:c.3329-126_3329-124del	NP_000341.2:n.3329-126_3329-124del
NM_000350.3:c.3329-126_3329-124del MANE Select	NP_000341.2:n.3329-126_3329-124del