Canonical Allele Identifier: CA2744619148

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94060844_94060845insCAG , CM000663.2:g.94060844_94060845insCAG	GRCh38
NC_000001.10:g.94526400_94526401insCAG , CM000663.1:g.94526400_94526401insCAG	GRCh37
NC_000001.9:g.94298988_94298989insCAG	NCBI36
NG_009073.1:g.65305_65306insCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1938-86_1938-85insCTG MANE Select	ENSP00000359245.3:n.1938-86_1938-85insCTG
ENST00000649773.1:c.1938-86_1938-85insCTG	ENSP00000496882.1:n.1938-86_1938-85insCTG
ENST00000370225.3:c.1938-86_1938-85insCTG	ENSP00000359245.3:n.1938-86_1938-85insCTG
ENST00000472033.1:n.58-86_58-85insCTG
ENST00000536513.5:c.-65+2329_-65+2330insCTG	ENSP00000439707.2:n.-65+2329_-65+2330insCTG
NM_000350.2:c.1938-86_1938-85insCTG	NP_000341.2:n.1938-86_1938-85insCTG
NM_000350.3:c.1938-86_1938-85insCTG MANE Select	NP_000341.2:n.1938-86_1938-85insCTG