Canonical Allele Identifier: CA10586240

Gene: CWF19L1

Linked Data

• ClinVar Variation Id: 253212
• ClinVar RCV Id: RCV000239655 ; RCV001268758
• dbSNP Id: rs879255654
• MyVariant Identifiers: chr10:g.102016056del (hg19) ; chr10:g.100256299del (hg38)
• PubMed: PMID:27016154

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100256302del , CM000672.2:g.100256302del	GRCh38
NC_000010.10:g.102016059del , CM000672.1:g.102016059del	GRCh37
NC_000010.9:g.102006049del	NCBI36
NG_041811.1:g.16383del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354105.10:c.467del MANE Select	ENSP00000326411.6:p.Pro156HisfsTer?
ENST00000354105.8:c.467del	ENSP00000326411.6:p.Pro156HisfsTer?
ENST00000466955.5:n.62-2760del
ENST00000468709.5:n.361-2760del
ENST00000473842.1:n.439del
ENST00000482452.5:n.193-2760del
ENST00000496796.5:n.231del
NM_001303404.1:c.467del	NP_001290333.1:p.Pro156HisfsTer?
NM_001303405.1:c.56del	NP_001290334.1:p.Pro19HisfsTer?
NM_001303406.1:c.56del	NP_001290335.1:p.Pro19HisfsTer?
NM_001303407.1:c.-231-2760del	NP_001290336.1:n.-231-2760del
NM_018294.5:c.467del	NP_060764.3:p.Pro156HisfsTer?
NM_018294.6:c.467del MANE Select	NP_060764.3:p.Pro156HisfsTer?
NM_001303404.2:c.467del	NP_001290333.1:p.Pro156HisfsTer?
NM_001303405.2:c.56del	NP_001290334.1:p.Pro19HisfsTer?
NM_001303406.2:c.56del	NP_001290335.1:p.Pro19HisfsTer?
NM_001303407.2:c.-231-2760del	NP_001290336.1:n.-231-2760del