Canonical Allele Identifier: CA2744619136

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94060835_94060836insC , CM000663.2:g.94060835_94060836insC	GRCh38
NC_000001.10:g.94526391_94526392insC , CM000663.1:g.94526391_94526392insC	GRCh37
NC_000001.9:g.94298979_94298980insC	NCBI36
NG_009073.1:g.65314_65315insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1938-77_1938-76insG MANE Select	ENSP00000359245.3:n.1938-77_1938-76insG
ENST00000649773.1:c.1938-77_1938-76insG	ENSP00000496882.1:n.1938-77_1938-76insG
ENST00000370225.3:c.1938-77_1938-76insG	ENSP00000359245.3:n.1938-77_1938-76insG
ENST00000472033.1:n.58-77_58-76insG
ENST00000536513.5:c.-65+2338_-65+2339insG	ENSP00000439707.2:n.-65+2338_-65+2339insG
NM_000350.2:c.1938-77_1938-76insG	NP_000341.2:n.1938-77_1938-76insG
NM_000350.3:c.1938-77_1938-76insG MANE Select	NP_000341.2:n.1938-77_1938-76insG