Canonical Allele Identifier: CA2646650192

Gene: ABCA4

Linked Data

• gnomAD v4: 1-94047180-C-CTA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047183_94047184dup , CM000663.2:g.94047183_94047184dup	GRCh38
NC_000001.10:g.94512739_94512740dup , CM000663.1:g.94512739_94512740dup	GRCh37
NC_000001.9:g.94285327_94285328dup	NCBI36
NG_009073.1:g.78968_78969dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2744-89_2744-88dup MANE Select	ENSP00000359245.3:n.2744-89_2744-88dup
ENST00000649773.1:c.2522-89_2522-88dup	ENSP00000496882.1:n.2522-89_2522-88dup
ENST00000370225.3:c.2744-89_2744-88dup	ENSP00000359245.3:n.2744-89_2744-88dup
ENST00000536513.5:c.-64-7093_-64-7092dup	ENSP00000439707.2:n.-64-7093_-64-7092dup
NM_000350.2:c.2744-89_2744-88dup	NP_000341.2:n.2744-89_2744-88dup
NM_000350.3:c.2744-89_2744-88dup MANE Select	NP_000341.2:n.2744-89_2744-88dup