Canonical Allele Identifier: CA2646650188

Gene: ABCA4

Linked Data

• gnomAD v4: 1-94047178-GCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047179_94047180del , CM000663.2:g.94047179_94047180del	GRCh38
NC_000001.10:g.94512735_94512736del , CM000663.1:g.94512735_94512736del	GRCh37
NC_000001.9:g.94285323_94285324del	NCBI36
NG_009073.1:g.78970_78971del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2744-87_2744-86del MANE Select	ENSP00000359245.3:n.2744-87_2744-86del
ENST00000649773.1:c.2522-87_2522-86del	ENSP00000496882.1:n.2522-87_2522-86del
ENST00000370225.3:c.2744-87_2744-86del	ENSP00000359245.3:n.2744-87_2744-86del
ENST00000536513.5:c.-64-7091_-64-7090del	ENSP00000439707.2:n.-64-7091_-64-7090del
NM_000350.2:c.2744-87_2744-86del	NP_000341.2:n.2744-87_2744-86del
NM_000350.3:c.2744-87_2744-86del MANE Select	NP_000341.2:n.2744-87_2744-86del