Canonical Allele Identifier: CA2744621197

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94111646_94111647insACAC , CM000663.2:g.94111646_94111647insACAC	GRCh38
NC_000001.10:g.94577202_94577203insACAC , CM000663.1:g.94577202_94577203insACAC	GRCh37
NC_000001.9:g.94349790_94349791insACAC	NCBI36
NG_009073.1:g.14503_14504insGTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.161-68_161-67insGTGT MANE Select	ENSP00000359245.3:n.161-68_161-67insGTGT
ENST00000649773.1:c.161-68_161-67insGTGT	ENSP00000496882.1:n.161-68_161-67insGTGT
ENST00000370225.3:c.161-68_161-67insGTGT	ENSP00000359245.3:n.161-68_161-67insGTGT
NM_000350.2:c.161-68_161-67insGTGT	NP_000341.2:n.161-68_161-67insGTGT
NM_000350.3:c.161-68_161-67insGTGT MANE Select	NP_000341.2:n.161-68_161-67insGTGT