Canonical Allele Identifier: CA2744616625

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94030684_94030685del , CM000663.2:g.94030684_94030685del	GRCh38
NC_000001.10:g.94496240_94496241del , CM000663.1:g.94496240_94496241del	GRCh37
NC_000001.9:g.94268828_94268829del	NCBI36
NG_009073.1:g.95465_95466del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4254-159_4254-158del MANE Select	ENSP00000359245.3:n.4254-159_4254-158del
ENST00000370225.3:c.4254-159_4254-158del	ENSP00000359245.3:n.4254-159_4254-158del
ENST00000536513.5:c.630-159_630-158del	ENSP00000439707.2:n.630-159_630-158del
NM_000350.2:c.4254-159_4254-158del	NP_000341.2:n.4254-159_4254-158del
NM_000350.3:c.4254-159_4254-158del MANE Select	NP_000341.2:n.4254-159_4254-158del