Canonical Allele Identifier: CA2744621211

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94111660_94111661insACT , CM000663.2:g.94111660_94111661insACT	GRCh38
NC_000001.10:g.94577216_94577217insACT , CM000663.1:g.94577216_94577217insACT	GRCh37
NC_000001.9:g.94349804_94349805insACT	NCBI36
NG_009073.1:g.14489_14490insAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.161-82_161-81insAGT MANE Select	ENSP00000359245.3:n.161-82_161-81insAGT
ENST00000649773.1:c.161-82_161-81insAGT	ENSP00000496882.1:n.161-82_161-81insAGT
ENST00000370225.3:c.161-82_161-81insAGT	ENSP00000359245.3:n.161-82_161-81insAGT
NM_000350.2:c.161-82_161-81insAGT	NP_000341.2:n.161-82_161-81insAGT
NM_000350.3:c.161-82_161-81insAGT MANE Select	NP_000341.2:n.161-82_161-81insAGT