Canonical Allele Identifier: CA740489071

Gene: ABCA4

Linked Data

• dbSNP Id: rs1470063866
• gnomAD v3: 1-94021568-G-GGAAAGT
• gnomAD v4: 1-94021568-G-GGAAAGT
• MyVariant Identifiers: chr1:g.94487124_94487125insGAAAGT (hg19) ; chr1:g.94021568_94021569insGAAAGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021569_94021574dup , CM000663.2:g.94021569_94021574dup	GRCh38
NC_000001.10:g.94487125_94487130dup , CM000663.1:g.94487125_94487130dup	GRCh37
NC_000001.9:g.94259713_94259718dup	NCBI36
NG_009073.1:g.104576_104581dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4848+66_4848+71dup MANE Select	ENSP00000359245.3:n.4848+66_4848+71dup
ENST00000370225.3:c.4848+66_4848+71dup	ENSP00000359245.3:n.4848+66_4848+71dup
ENST00000460514.1:n.342+66_342+71dup
ENST00000536513.5:c.1224+66_1224+71dup	ENSP00000439707.2:n.1224+66_1224+71dup
NM_000350.2:c.4848+66_4848+71dup	NP_000341.2:n.4848+66_4848+71dup
NM_000350.3:c.4848+66_4848+71dup MANE Select	NP_000341.2:n.4848+66_4848+71dup