Canonical Allele Identifier: CA2744617316

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041465_94041466insAC , CM000663.2:g.94041465_94041466insAC	GRCh38
NC_000001.10:g.94507021_94507022insAC , CM000663.1:g.94507021_94507022insAC	GRCh37
NC_000001.9:g.94279609_94279610insAC	NCBI36
NG_009073.1:g.84684_84685insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3329-64_3329-63insGT MANE Select	ENSP00000359245.3:n.3329-64_3329-63insGT
ENST00000370225.3:c.3329-64_3329-63insGT	ENSP00000359245.3:n.3329-64_3329-63insGT
ENST00000536513.5:c.-64-1377_-64-1376insGT	ENSP00000439707.2:n.-64-1377_-64-1376insGT
NM_000350.2:c.3329-64_3329-63insGT	NP_000341.2:n.3329-64_3329-63insGT
NM_000350.3:c.3329-64_3329-63insGT MANE Select	NP_000341.2:n.3329-64_3329-63insGT