Canonical Allele Identifier: CA1181428137

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94060859_94060860delinsTG , CM000663.2:g.94060859_94060860delinsTG	GRCh38
NC_000001.10:g.94526415_94526416delinsTG , CM000663.1:g.94526415_94526416delinsTG	GRCh37
NC_000001.9:g.94299003_94299004delinsTG	NCBI36
NG_009073.1:g.65290_65291delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1938-101_1938-100delinsCA MANE Select	ENSP00000359245.3:n.1938-101_1938-100delinsCA
ENST00000649773.1:c.1938-101_1938-100delinsCA	ENSP00000496882.1:n.1938-101_1938-100delinsCA
ENST00000370225.3:c.1938-101_1938-100delinsCA	ENSP00000359245.3:n.1938-101_1938-100delinsCA
ENST00000472033.1:n.58-101_58-100delinsCA
ENST00000536513.5:c.-65+2314_-65+2315delinsCA	ENSP00000439707.2:n.-65+2314_-65+2315delinsCA
NM_000350.2:c.1938-101_1938-100delinsCA	NP_000341.2:n.1938-101_1938-100delinsCA
NM_000350.3:c.1938-101_1938-100delinsCA MANE Select	NP_000341.2:n.1938-101_1938-100delinsCA