Canonical Allele Identifier: CA2744615612

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021454_94021457del , CM000663.2:g.94021454_94021457del	GRCh38
NC_000001.10:g.94487010_94487013del , CM000663.1:g.94487010_94487013del	GRCh37
NC_000001.9:g.94259598_94259601del	NCBI36
NG_009073.1:g.104693_104696del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4849-48_4849-45del MANE Select	ENSP00000359245.3:n.4849-48_4849-45del
ENST00000370225.3:c.4849-48_4849-45del	ENSP00000359245.3:n.4849-48_4849-45del
ENST00000460514.1:n.343-48_343-45del
ENST00000536513.5:c.1225-48_1225-45del	ENSP00000439707.2:n.1225-48_1225-45del
NM_000350.2:c.4849-48_4849-45del	NP_000341.2:n.4849-48_4849-45del
NM_000350.3:c.4849-48_4849-45del MANE Select	NP_000341.2:n.4849-48_4849-45del