Canonical Allele Identifier: CA2744616634

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94030687_94030689del , CM000663.2:g.94030687_94030689del	GRCh38
NC_000001.10:g.94496243_94496245del , CM000663.1:g.94496243_94496245del	GRCh37
NC_000001.9:g.94268831_94268833del	NCBI36
NG_009073.1:g.95461_95463del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4254-163_4254-161del MANE Select	ENSP00000359245.3:n.4254-163_4254-161del
ENST00000370225.3:c.4254-163_4254-161del	ENSP00000359245.3:n.4254-163_4254-161del
ENST00000536513.5:c.630-163_630-161del	ENSP00000439707.2:n.630-163_630-161del
NM_000350.2:c.4254-163_4254-161del	NP_000341.2:n.4254-163_4254-161del
NM_000350.3:c.4254-163_4254-161del MANE Select	NP_000341.2:n.4254-163_4254-161del