Canonical Allele Identifier: CA2744619132

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94060832_94060833insCT , CM000663.2:g.94060832_94060833insCT	GRCh38
NC_000001.10:g.94526388_94526389insCT , CM000663.1:g.94526388_94526389insCT	GRCh37
NC_000001.9:g.94298976_94298977insCT	NCBI36
NG_009073.1:g.65317_65318insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1938-74_1938-73insAG MANE Select	ENSP00000359245.3:n.1938-74_1938-73insAG
ENST00000649773.1:c.1938-74_1938-73insAG	ENSP00000496882.1:n.1938-74_1938-73insAG
ENST00000370225.3:c.1938-74_1938-73insAG	ENSP00000359245.3:n.1938-74_1938-73insAG
ENST00000472033.1:n.58-74_58-73insAG
ENST00000536513.5:c.-65+2341_-65+2342insAG	ENSP00000439707.2:n.-65+2341_-65+2342insAG
NM_000350.2:c.1938-74_1938-73insAG	NP_000341.2:n.1938-74_1938-73insAG
NM_000350.3:c.1938-74_1938-73insAG MANE Select	NP_000341.2:n.1938-74_1938-73insAG