Canonical Allele Identifier: CA119136
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 7902
ClinVar RCV Id: RCV000008360 RCV000085495
dbSNP Id: rs62642560
MyVariant Identifiers: chr1:g.94517225_94517226del (hg19) chr1:g.94051669_94051670del (hg38)
PubMed: PMID:12515255
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94051669_94051670del , CM000663.2:g.94051669_94051670del GRCh38
NC_000001.10:g.94517225_94517226del , CM000663.1:g.94517225_94517226del GRCh37
NC_000001.9:g.94289813_94289814del NCBI36
NG_009073.1:g.74480_74481del

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.2616_2617del MANE Select ENSP00000359245.3:p.Phe873SerfsTer11
ENST00000649773.1:c.2394_2395del ENSP00000496882.1:p.Phe799SerfsTer11
ENST00000370225.3:c.2616_2617del ENSP00000359245.3:p.Phe873SerfsTer11
ENST00000536513.5:c.-65+11504_-65+11505del ENSP00000439707.2:n.-65+11504_-65+11505de...
NM_000350.2:c.2616_2617del NP_000341.2:p.Phe873SerfsTer11
NM_000350.3:c.2616_2617del MANE Select NP_000341.2:p.Phe873SerfsTer11
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