Canonical Allele Identifier: CA2744615656

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021550_94021552del , CM000663.2:g.94021550_94021552del	GRCh38
NC_000001.10:g.94487106_94487108del , CM000663.1:g.94487106_94487108del	GRCh37
NC_000001.9:g.94259694_94259696del	NCBI36
NG_009073.1:g.104598_104600del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4848+88_4848+90del MANE Select	ENSP00000359245.3:n.4848+88_4848+90del
ENST00000370225.3:c.4848+88_4848+90del	ENSP00000359245.3:n.4848+88_4848+90del
ENST00000460514.1:n.342+88_342+90del
ENST00000536513.5:c.1224+88_1224+90del	ENSP00000439707.2:n.1224+88_1224+90del
NM_000350.2:c.4848+88_4848+90del	NP_000341.2:n.4848+88_4848+90del
NM_000350.3:c.4848+88_4848+90del MANE Select	NP_000341.2:n.4848+88_4848+90del