Canonical Allele Identifier: CA1181422647

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047099_94047100delinsAG , CM000663.2:g.94047099_94047100delinsAG	GRCh38
NC_000001.10:g.94512655_94512656delinsAG , CM000663.1:g.94512655_94512656delinsAG	GRCh37
NC_000001.9:g.94285243_94285244delinsAG	NCBI36
NG_009073.1:g.79050_79051delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2744-7_2744-6delinsCT MANE Select	ENSP00000359245.3:n.2744-7_2744-6delinsCT
ENST00000649773.1:c.2522-7_2522-6delinsCT	ENSP00000496882.1:n.2522-7_2522-6delinsCT
ENST00000370225.3:c.2744-7_2744-6delinsCT	ENSP00000359245.3:n.2744-7_2744-6delinsCT
ENST00000536513.5:c.-64-7011_-64-7010delinsCT	ENSP00000439707.2:n.-64-7011_-64-7010delinsCT
NM_000350.2:c.2744-7_2744-6delinsCT	NP_000341.2:n.2744-7_2744-6delinsCT
NM_000350.3:c.2744-7_2744-6delinsCT MANE Select	NP_000341.2:n.2744-7_2744-6delinsCT