Canonical Allele Identifier: CA957701
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs771797931
ExAC: 1:94496665 CG / C
MyVariant Identifiers: chr1:g.94496666del (hg19) chr1:g.94031110del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94031112del , CM000663.2:g.94031112del GRCh38
NC_000001.10:g.94496668del , CM000663.1:g.94496668del GRCh37
NC_000001.9:g.94269256del NCBI36
NG_009073.1:g.95040del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4139del MANE Select ENSP00000359245.3:p.Pro1380ArgfsTer9
ENST00000370225.3:c.4139del ENSP00000359245.3:p.Pro1380ArgfsTer9
ENST00000536513.5:c.515del ENSP00000439707.2:p.Pro172ArgfsTer9
NM_000350.2:c.4139del NP_000341.2:p.Pro1380ArgfsTer9
NM_000350.3:c.4139del MANE Select NP_000341.2:p.Pro1380ArgfsTer9
Search 100 bp 5'
Search 100 bp 3'