Canonical Allele Identifier: CA2744615625

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021484_94021487del , CM000663.2:g.94021484_94021487del	GRCh38
NC_000001.10:g.94487040_94487043del , CM000663.1:g.94487040_94487043del	GRCh37
NC_000001.9:g.94259628_94259631del	NCBI36
NG_009073.1:g.104663_104666del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4849-78_4849-75del MANE Select	ENSP00000359245.3:n.4849-78_4849-75del
ENST00000370225.3:c.4849-78_4849-75del	ENSP00000359245.3:n.4849-78_4849-75del
ENST00000460514.1:n.343-78_343-75del
ENST00000536513.5:c.1225-78_1225-75del	ENSP00000439707.2:n.1225-78_1225-75del
NM_000350.2:c.4849-78_4849-75del	NP_000341.2:n.4849-78_4849-75del
NM_000350.3:c.4849-78_4849-75del MANE Select	NP_000341.2:n.4849-78_4849-75del