Canonical Allele Identifier: CA2744615594

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021090_94021220del , CM000663.2:g.94021090_94021220del	GRCh38
NC_000001.10:g.94486646_94486776del , CM000663.1:g.94486646_94486776del	GRCh37
NC_000001.9:g.94259234_94259364del	NCBI36
NG_009073.1:g.104937_105067del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.5018+27_5018+157del MANE Select	ENSP00000359245.3:n.5018+27_5018+157del
ENST00000370225.3:c.5018+27_5018+157del	ENSP00000359245.3:n.5018+27_5018+157del
ENST00000460514.1:n.512+27_512+157del
ENST00000470771.1:n.128+27_128+157del
ENST00000536513.5:c.1394+27_1394+157del	ENSP00000439707.2:n.1394+27_1394+157del
NM_000350.2:c.5018+27_5018+157del	NP_000341.2:n.5018+27_5018+157del
NM_000350.3:c.5018+27_5018+157del MANE Select	NP_000341.2:n.5018+27_5018+157del