Canonical Allele Identifier: CA2744615611

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021453_94021454insACA , CM000663.2:g.94021453_94021454insACA	GRCh38
NC_000001.10:g.94487009_94487010insACA , CM000663.1:g.94487009_94487010insACA	GRCh37
NC_000001.9:g.94259597_94259598insACA	NCBI36
NG_009073.1:g.104696_104697insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4849-45_4849-44insTGT MANE Select	ENSP00000359245.3:n.4849-45_4849-44insTGT
ENST00000370225.3:c.4849-45_4849-44insTGT	ENSP00000359245.3:n.4849-45_4849-44insTGT
ENST00000460514.1:n.343-45_343-44insTGT
ENST00000536513.5:c.1225-45_1225-44insTGT	ENSP00000439707.2:n.1225-45_1225-44insTGT
NM_000350.2:c.4849-45_4849-44insTGT	NP_000341.2:n.4849-45_4849-44insTGT
NM_000350.3:c.4849-45_4849-44insTGT MANE Select	NP_000341.2:n.4849-45_4849-44insTGT