Canonical Allele Identifier: CA2744617372

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041480_94041481insACA , CM000663.2:g.94041480_94041481insACA	GRCh38
NC_000001.10:g.94507036_94507037insACA , CM000663.1:g.94507036_94507037insACA	GRCh37
NC_000001.9:g.94279624_94279625insACA	NCBI36
NG_009073.1:g.84669_84670insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3329-79_3329-78insTGT MANE Select	ENSP00000359245.3:n.3329-79_3329-78insTGT
ENST00000370225.3:c.3329-79_3329-78insTGT	ENSP00000359245.3:n.3329-79_3329-78insTGT
ENST00000536513.5:c.-64-1392_-64-1391insTGT	ENSP00000439707.2:n.-64-1392_-64-1391insTGT
NM_000350.2:c.3329-79_3329-78insTGT	NP_000341.2:n.3329-79_3329-78insTGT
NM_000350.3:c.3329-79_3329-78insTGT MANE Select	NP_000341.2:n.3329-79_3329-78insTGT