Canonical Allele Identifier: CA2744614345

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94010608_94010759del , CM000663.2:g.94010608_94010759del	GRCh38
NC_000001.10:g.94476164_94476315del , CM000663.1:g.94476164_94476315del	GRCh37
NC_000001.9:g.94248752_94248903del	NCBI36
NG_009073.1:g.115398_115549del

Transcript Alleles

HGVS	Amino-acid change
ENST00000370225.4:c.5714+48_5714+199del MANE Select	ENSP00000359245.3:n.5714+48_5714+199del
ENST00000370225.3:c.5714+48_5714+199del	ENSP00000359245.3:n.5714+48_5714+199del
ENST00000465352.1:n.130+48_130+199del
ENST00000536513.5:c.2090+48_2090+199del	ENSP00000439707.2:n.2090+48_2090+199del
NM_000350.2:c.5714+48_5714+199del	NP_000341.2:n.5714+48_5714+199del
NM_000350.3:c.5714+48_5714+199del MANE Select	NP_000341.2:n.5714+48_5714+199del