Canonical Allele Identifier: CA1181428116

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94060815_94060819delinsGAATA , CM000663.2:g.94060815_94060819delinsGAATA	GRCh38
NC_000001.10:g.94526371_94526375delinsGAATA , CM000663.1:g.94526371_94526375delinsGAATA	GRCh37
NC_000001.9:g.94298959_94298963delinsGAATA	NCBI36
NG_009073.1:g.65331_65335delinsTATTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1938-60_1938-56delinsTATTC MANE Select	ENSP00000359245.3:n.1938-60_1938-56delinsTATTC
ENST00000649773.1:c.1938-60_1938-56delinsTATTC	ENSP00000496882.1:n.1938-60_1938-56delinsTATTC
ENST00000370225.3:c.1938-60_1938-56delinsTATTC	ENSP00000359245.3:n.1938-60_1938-56delinsTATTC
ENST00000472033.1:n.58-60_58-56delinsTATTC
ENST00000536513.5:c.-65+2355_-65+2359delinsTATTC	ENSP00000439707.2:n.-65+2355_-65+2359delinsTATTC
NM_000350.2:c.1938-60_1938-56delinsTATTC	NP_000341.2:n.1938-60_1938-56delinsTATTC
NM_000350.3:c.1938-60_1938-56delinsTATTC MANE Select	NP_000341.2:n.1938-60_1938-56delinsTATTC