Canonical Allele Identifier: CA2744615630

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021496_94021497del , CM000663.2:g.94021496_94021497del	GRCh38
NC_000001.10:g.94487052_94487053del , CM000663.1:g.94487052_94487053del	GRCh37
NC_000001.9:g.94259640_94259641del	NCBI36
NG_009073.1:g.104653_104654del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4849-88_4849-87del MANE Select	ENSP00000359245.3:n.4849-88_4849-87del
ENST00000370225.3:c.4849-88_4849-87del	ENSP00000359245.3:n.4849-88_4849-87del
ENST00000460514.1:n.343-88_343-87del
ENST00000536513.5:c.1225-88_1225-87del	ENSP00000439707.2:n.1225-88_1225-87del
NM_000350.2:c.4849-88_4849-87del	NP_000341.2:n.4849-88_4849-87del
NM_000350.3:c.4849-88_4849-87del MANE Select	NP_000341.2:n.4849-88_4849-87del