Canonical Allele Identifier: CA227345

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99411
• ClinVar RCV Id: RCV000085766
• dbSNP Id: rs281865396
• MyVariant Identifiers: chr1:g.94473888_94473889dupGA (hg19) ; chr1:g.94008332_94008333dupGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94008332_94008333dup , CM000663.2:g.94008332_94008333dup	GRCh38
NC_000001.10:g.94473888_94473889dup , CM000663.1:g.94473888_94473889dup	GRCh37
NC_000001.9:g.94246476_94246477dup	NCBI36
NG_009073.1:g.117819_117820dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.5836-34_5836-33dup MANE Select	ENSP00000359245.3:n.5836-34_5836-33dup
ENST00000370225.3:c.5836-34_5836-33dup	ENSP00000359245.3:n.5836-34_5836-33dup
ENST00000465352.1:n.252-34_252-33dup
ENST00000536513.5:c.2212-34_2212-33dup	ENSP00000439707.2:n.2212-34_2212-33dup
NM_000350.2:c.5836-34_5836-33dup	NP_000341.2:n.5836-34_5836-33dup
NM_000350.3:c.5836-34_5836-33dup MANE Select	NP_000341.2:n.5836-34_5836-33dup