Canonical Allele Identifier: CA023421
Gene: CRIPT HGNC NCBI

Linked Data

ClinVar Variation Id: 127250
ClinVar RCV Id: RCV000115047 RCV000116207
dbSNP Id: rs587779348
gnomAD v4: 2-46623764-AT-A
MyVariant Identifiers: chr2:g.46850906del (hg19) chr2:g.46623767del (hg38)
PubMed: PMID:24389050
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.46623767del , CM000664.2:g.46623767del GRCh38
NC_000002.11:g.46850906del , CM000664.1:g.46850906del GRCh37
NC_000002.10:g.46704410del NCBI36
NG_034144.1:g.11596del

Transcript Alleles

HGVS Amino-acid Change
ENST00000238892.4:c.141del MANE Select ENSP00000238892.3:p.Phe47LeufsTer?
ENST00000238892.3:c.141del ENSP00000238892.3:p.Phe47LeufsTer?
ENST00000486447.1:n.733del
NM_014171.5:c.141del NP_054890.1:p.Phe47LeufsTer?
NM_014171.6:c.141del MANE Select NP_054890.1:p.Phe47LeufsTer?
Search 100 bp 5'
Search 100 bp 3'