Canonical Allele Identifier: CA1181414959

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94030550_94030551delinsTG , CM000663.2:g.94030550_94030551delinsTG	GRCh38
NC_000001.10:g.94496106_94496107delinsTG , CM000663.1:g.94496106_94496107delinsTG	GRCh37
NC_000001.9:g.94268694_94268695delinsTG	NCBI36
NG_009073.1:g.95599_95600delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4254-25_4254-24delinsCA MANE Select	ENSP00000359245.3:n.4254-25_4254-24delinsCA
ENST00000370225.3:c.4254-25_4254-24delinsCA	ENSP00000359245.3:n.4254-25_4254-24delinsCA
ENST00000536513.5:c.630-25_630-24delinsCA	ENSP00000439707.2:n.630-25_630-24delinsCA
NM_000350.2:c.4254-25_4254-24delinsCA	NP_000341.2:n.4254-25_4254-24delinsCA
NM_000350.3:c.4254-25_4254-24delinsCA MANE Select	NP_000341.2:n.4254-25_4254-24delinsCA