Canonical Allele Identifier: CA2646651666

Gene: ABCA4

Linked Data

• gnomAD v4: 1-94062507-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062507_94062508insC , CM000663.2:g.94062507_94062508insC	GRCh38
NC_000001.10:g.94528063_94528064insC , CM000663.1:g.94528063_94528064insC	GRCh37
NC_000001.9:g.94300651_94300652insC	NCBI36
NG_009073.1:g.63642_63643insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1937+69_1937+70insG MANE Select	ENSP00000359245.3:n.1937+69_1937+70insG
ENST00000649773.1:c.1937+69_1937+70insG	ENSP00000496882.1:n.1937+69_1937+70insG
ENST00000370225.3:c.1937+69_1937+70insG	ENSP00000359245.3:n.1937+69_1937+70insG
ENST00000536513.5:c.-65+666_-65+667insG	ENSP00000439707.2:n.-65+666_-65+667insG
NM_000350.2:c.1937+69_1937+70insG	NP_000341.2:n.1937+69_1937+70insG
NM_000350.3:c.1937+69_1937+70insG MANE Select	NP_000341.2:n.1937+69_1937+70insG