Canonical Allele Identifier: CA2744619138

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94060838_94060839insAC , CM000663.2:g.94060838_94060839insAC	GRCh38
NC_000001.10:g.94526394_94526395insAC , CM000663.1:g.94526394_94526395insAC	GRCh37
NC_000001.9:g.94298982_94298983insAC	NCBI36
NG_009073.1:g.65311_65312insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1938-80_1938-79insGT MANE Select	ENSP00000359245.3:n.1938-80_1938-79insGT
ENST00000649773.1:c.1938-80_1938-79insGT	ENSP00000496882.1:n.1938-80_1938-79insGT
ENST00000370225.3:c.1938-80_1938-79insGT	ENSP00000359245.3:n.1938-80_1938-79insGT
ENST00000472033.1:n.58-80_58-79insGT
ENST00000536513.5:c.-65+2335_-65+2336insGT	ENSP00000439707.2:n.-65+2335_-65+2336insGT
NM_000350.2:c.1938-80_1938-79insGT	NP_000341.2:n.1938-80_1938-79insGT
NM_000350.3:c.1938-80_1938-79insGT MANE Select	NP_000341.2:n.1938-80_1938-79insGT