Canonical Allele Identifier: CA740503676

Gene: ABCA4

Linked Data

• dbSNP Id: rs1170626303
• gnomAD v3: 1-94051720-CAG-C
• gnomAD v4: 1-94051720-CAG-C
• MyVariant Identifiers: chr1:g.94517277_94517278del (hg19) ; chr1:g.94051721_94051722del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94051724_94051725del , CM000663.2:g.94051724_94051725del	GRCh38
NC_000001.10:g.94517280_94517281del , CM000663.1:g.94517280_94517281del	GRCh37
NC_000001.9:g.94289868_94289869del	NCBI36
NG_009073.1:g.74428_74429del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2588-24_2588-23del MANE Select	ENSP00000359245.3:n.2588-24_2588-23del
ENST00000649773.1:c.2366-24_2366-23del	ENSP00000496882.1:n.2366-24_2366-23del
ENST00000370225.3:c.2588-24_2588-23del	ENSP00000359245.3:n.2588-24_2588-23del
ENST00000536513.5:c.-65+11452_-65+11453del	ENSP00000439707.2:n.-65+11452_-65+11453del
NM_000350.2:c.2588-24_2588-23del	NP_000341.2:n.2588-24_2588-23del
NM_000350.3:c.2588-24_2588-23del MANE Select	NP_000341.2:n.2588-24_2588-23del