Canonical Allele Identifier: CA1181447837

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94111588_94111590delinsCAG , CM000663.2:g.94111588_94111590delinsCAG	GRCh38
NC_000001.10:g.94577144_94577146delinsCAG , CM000663.1:g.94577144_94577146delinsCAG	GRCh37
NC_000001.9:g.94349732_94349734delinsCAG	NCBI36
NG_009073.1:g.14560_14562delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.161-11_161-9delinsCTG MANE Select	ENSP00000359245.3:n.161-11_161-9delinsCTG
ENST00000649773.1:c.161-11_161-9delinsCTG	ENSP00000496882.1:n.161-11_161-9delinsCTG
ENST00000370225.3:c.161-11_161-9delinsCTG	ENSP00000359245.3:n.161-11_161-9delinsCTG
NM_000350.2:c.161-11_161-9delinsCTG	NP_000341.2:n.161-11_161-9delinsCTG
NM_000350.3:c.161-11_161-9delinsCTG MANE Select	NP_000341.2:n.161-11_161-9delinsCTG