Canonical Allele Identifier: CA1181407806

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94011173_94011174delinsCT , CM000663.2:g.94011173_94011174delinsCT	GRCh38
NC_000001.10:g.94476729_94476730delinsCT , CM000663.1:g.94476729_94476730delinsCT	GRCh37
NC_000001.9:g.94249317_94249318delinsCT	NCBI36
NG_009073.1:g.114976_114977delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.5584+88_5584+89delinsAG MANE Select	ENSP00000359245.3:n.5584+88_5584+89delinsAG
ENST00000370225.3:c.5584+88_5584+89delinsAG	ENSP00000359245.3:n.5584+88_5584+89delinsAG
ENST00000536513.5:c.1960+88_1960+89delinsAG	ENSP00000439707.2:n.1960+88_1960+89delinsAG
NM_000350.2:c.5584+88_5584+89delinsAG	NP_000341.2:n.5584+88_5584+89delinsAG
NM_000350.3:c.5584+88_5584+89delinsAG MANE Select	NP_000341.2:n.5584+88_5584+89delinsAG