Canonical Allele Identifier: CA2744617375

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041482_94041483insACA , CM000663.2:g.94041482_94041483insACA	GRCh38
NC_000001.10:g.94507038_94507039insACA , CM000663.1:g.94507038_94507039insACA	GRCh37
NC_000001.9:g.94279626_94279627insACA	NCBI36
NG_009073.1:g.84667_84668insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3329-81_3329-80insTGT MANE Select	ENSP00000359245.3:n.3329-81_3329-80insTGT
ENST00000370225.3:c.3329-81_3329-80insTGT	ENSP00000359245.3:n.3329-81_3329-80insTGT
ENST00000536513.5:c.-64-1394_-64-1393insTGT	ENSP00000439707.2:n.-64-1394_-64-1393insTGT
NM_000350.2:c.3329-81_3329-80insTGT	NP_000341.2:n.3329-81_3329-80insTGT
NM_000350.3:c.3329-81_3329-80insTGT MANE Select	NP_000341.2:n.3329-81_3329-80insTGT