Canonical Allele Identifier: CA10576058

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 225695
• ClinVar RCV Id: RCV000210994
• MyVariant Identifiers: chr1:g.94463476_94468246del (hg19) ; chr1:g.93997920_94002690del (hg38)
• PubMed: PMID:26527198

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.93997920_94002690del , CM000663.2:g.93997920_94002690del	GRCh38
NC_000001.10:g.94463476_94468246del , CM000663.1:g.94463476_94468246del	GRCh37
NC_000001.9:g.94236064_94240834del	NCBI36
NG_009073.1:g.123460_128230del

Transcript Alleles

HGVS	Amino-acid change
ENST00000370225.4:c.6148-698_6670del
ENST00000370225.3:c.6148-698_6670del
ENST00000536513.5:c.2524-698_3046del
NM_000350.2:c.6148-698_6670del
NM_000350.3:c.6148-698_6670del