Canonical Allele Identifier: CA2744621192

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94111635_94111636insACT , CM000663.2:g.94111635_94111636insACT	GRCh38
NC_000001.10:g.94577191_94577192insACT , CM000663.1:g.94577191_94577192insACT	GRCh37
NC_000001.9:g.94349779_94349780insACT	NCBI36
NG_009073.1:g.14514_14515insAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.161-57_161-56insAGT MANE Select	ENSP00000359245.3:n.161-57_161-56insAGT
ENST00000649773.1:c.161-57_161-56insAGT	ENSP00000496882.1:n.161-57_161-56insAGT
ENST00000370225.3:c.161-57_161-56insAGT	ENSP00000359245.3:n.161-57_161-56insAGT
NM_000350.2:c.161-57_161-56insAGT	NP_000341.2:n.161-57_161-56insAGT
NM_000350.3:c.161-57_161-56insAGT MANE Select	NP_000341.2:n.161-57_161-56insAGT