Canonical Allele Identifier: CA2744616530

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94030566_94030567insA , CM000663.2:g.94030566_94030567insA	GRCh38
NC_000001.10:g.94496122_94496123insA , CM000663.1:g.94496122_94496123insA	GRCh37
NC_000001.9:g.94268710_94268711insA	NCBI36
NG_009073.1:g.95583_95584insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4254-41_4254-40insT MANE Select	ENSP00000359245.3:n.4254-41_4254-40insT
ENST00000370225.3:c.4254-41_4254-40insT	ENSP00000359245.3:n.4254-41_4254-40insT
ENST00000536513.5:c.630-41_630-40insT	ENSP00000439707.2:n.630-41_630-40insT
NM_000350.2:c.4254-41_4254-40insT	NP_000341.2:n.4254-41_4254-40insT
NM_000350.3:c.4254-41_4254-40insT MANE Select	NP_000341.2:n.4254-41_4254-40insT