Canonical Allele Identifier: CA227381

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99439
• ClinVar RCV Id: RCV000085798 ; RCV000986345 ; RCV001073616
• dbSNP Id: rs281865382
• gnomAD v4: 1-94001900-GGA-G
• MyVariant Identifiers: chr1:g.94467457_94467458del (hg19) ; chr1:g.94001901_94001902del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94001904_94001905del , CM000663.2:g.94001904_94001905del	GRCh38
NC_000001.10:g.94467460_94467461del , CM000663.1:g.94467460_94467461del	GRCh37
NC_000001.9:g.94240048_94240049del	NCBI36
NG_009073.1:g.124248_124249del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6238_6239del MANE Select	ENSP00000359245.3:p.Ser2080HisfsTer16
ENST00000370225.3:c.6238_6239del	ENSP00000359245.3:p.Ser2080HisfsTer16
ENST00000465352.1:n.654_655del
ENST00000536513.5:c.2614_2615del	ENSP00000439707.2:p.Ser872HisfsTer16
NM_000350.2:c.6238_6239del	NP_000341.2:p.Ser2080HisfsTer16
NM_000350.3:c.6238_6239del MANE Select	NP_000341.2:p.Ser2080HisfsTer16