Canonical Allele Identifier: CA2744621206

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94111655_94111656insAC , CM000663.2:g.94111655_94111656insAC	GRCh38
NC_000001.10:g.94577211_94577212insAC , CM000663.1:g.94577211_94577212insAC	GRCh37
NC_000001.9:g.94349799_94349800insAC	NCBI36
NG_009073.1:g.14494_14495insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.161-77_161-76insGT MANE Select	ENSP00000359245.3:n.161-77_161-76insGT
ENST00000649773.1:c.161-77_161-76insGT	ENSP00000496882.1:n.161-77_161-76insGT
ENST00000370225.3:c.161-77_161-76insGT	ENSP00000359245.3:n.161-77_161-76insGT
NM_000350.2:c.161-77_161-76insGT	NP_000341.2:n.161-77_161-76insGT
NM_000350.3:c.161-77_161-76insGT MANE Select	NP_000341.2:n.161-77_161-76insGT