Canonical Allele Identifier: CA2744615622

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021476_94021477insGTC , CM000663.2:g.94021476_94021477insGTC	GRCh38
NC_000001.10:g.94487032_94487033insGTC , CM000663.1:g.94487032_94487033insGTC	GRCh37
NC_000001.9:g.94259620_94259621insGTC	NCBI36
NG_009073.1:g.104673_104674insGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4849-68_4849-67insGAC MANE Select	ENSP00000359245.3:n.4849-68_4849-67insGAC
ENST00000370225.3:c.4849-68_4849-67insGAC	ENSP00000359245.3:n.4849-68_4849-67insGAC
ENST00000460514.1:n.343-68_343-67insGAC
ENST00000536513.5:c.1225-68_1225-67insGAC	ENSP00000439707.2:n.1225-68_1225-67insGAC
NM_000350.2:c.4849-68_4849-67insGAC	NP_000341.2:n.4849-68_4849-67insGAC
NM_000350.3:c.4849-68_4849-67insGAC MANE Select	NP_000341.2:n.4849-68_4849-67insGAC