Canonical Allele Identifier: CA1181422675

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047130_94047131delinsTG , CM000663.2:g.94047130_94047131delinsTG	GRCh38
NC_000001.10:g.94512686_94512687delinsTG , CM000663.1:g.94512686_94512687delinsTG	GRCh37
NC_000001.9:g.94285274_94285275delinsTG	NCBI36
NG_009073.1:g.79019_79020delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2744-38_2744-37delinsCA MANE Select	ENSP00000359245.3:n.2744-38_2744-37delinsCA
ENST00000649773.1:c.2522-38_2522-37delinsCA	ENSP00000496882.1:n.2522-38_2522-37delinsCA
ENST00000370225.3:c.2744-38_2744-37delinsCA	ENSP00000359245.3:n.2744-38_2744-37delinsCA
ENST00000536513.5:c.-64-7042_-64-7041delinsCA	ENSP00000439707.2:n.-64-7042_-64-7041delinsCA
NM_000350.2:c.2744-38_2744-37delinsCA	NP_000341.2:n.2744-38_2744-37delinsCA
NM_000350.3:c.2744-38_2744-37delinsCA MANE Select	NP_000341.2:n.2744-38_2744-37delinsCA