Canonical Allele Identifier: CA2744616613

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94030675_94030692del , CM000663.2:g.94030675_94030692del	GRCh38
NC_000001.10:g.94496231_94496248del , CM000663.1:g.94496231_94496248del	GRCh37
NC_000001.9:g.94268819_94268836del	NCBI36
NG_009073.1:g.95458_95475del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4254-166_4254-149del MANE Select	ENSP00000359245.3:n.4254-166_4254-149del
ENST00000370225.3:c.4254-166_4254-149del	ENSP00000359245.3:n.4254-166_4254-149del
ENST00000536513.5:c.630-166_630-149del	ENSP00000439707.2:n.630-166_630-149del
NM_000350.2:c.4254-166_4254-149del	NP_000341.2:n.4254-166_4254-149del
NM_000350.3:c.4254-166_4254-149del MANE Select	NP_000341.2:n.4254-166_4254-149del