Canonical Allele Identifier: CA2744619119

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94060827_94060828insACA , CM000663.2:g.94060827_94060828insACA	GRCh38
NC_000001.10:g.94526383_94526384insACA , CM000663.1:g.94526383_94526384insACA	GRCh37
NC_000001.9:g.94298971_94298972insACA	NCBI36
NG_009073.1:g.65322_65323insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1938-69_1938-68insTGT MANE Select	ENSP00000359245.3:n.1938-69_1938-68insTGT
ENST00000649773.1:c.1938-69_1938-68insTGT	ENSP00000496882.1:n.1938-69_1938-68insTGT
ENST00000370225.3:c.1938-69_1938-68insTGT	ENSP00000359245.3:n.1938-69_1938-68insTGT
ENST00000472033.1:n.58-69_58-68insTGT
ENST00000536513.5:c.-65+2346_-65+2347insTGT	ENSP00000439707.2:n.-65+2346_-65+2347insTGT
NM_000350.2:c.1938-69_1938-68insTGT	NP_000341.2:n.1938-69_1938-68insTGT
NM_000350.3:c.1938-69_1938-68insTGT MANE Select	NP_000341.2:n.1938-69_1938-68insTGT