Canonical Allele Identifier: CA5647024

Gene: CWF19L1

Linked Data

• ClinVar Variation Id: 806557
• ClinVar RCV Id: RCV000994492 ; RCV001291710
• dbSNP Id: rs749679347
• ExAC: 10:102005577 GA / G
• gnomAD v2: 10-102005577-GA-G
• gnomAD v4: 10-100245820-GA-G
• MyVariant Identifiers: chr10:g.102005578del (hg19) ; chr10:g.100245821del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100245821del , CM000672.2:g.100245821del	GRCh38
NC_000010.10:g.102005578del , CM000672.1:g.102005578del	GRCh37
NC_000010.9:g.101995568del	NCBI36
NG_041811.1:g.26861del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354105.10:c.942del MANE Select	ENSP00000326411.6:p.Pro315GlnfsTer?
ENST00000354105.8:c.942del	ENSP00000326411.6:p.Pro315GlnfsTer?
ENST00000370379.1:c.207del	ENSP00000359405.1:p.Pro70GlnfsTer?
ENST00000466408.1:n.296del
ENST00000466955.5:n.483del
ENST00000468709.5:n.798del
ENST00000478047.1:n.1200-7590del
ENST00000482452.5:n.630del
ENST00000496796.5:n.706del
NM_001303404.1:c.942del	NP_001290333.1:p.Pro315GlnfsTer?
NM_001303405.1:c.531del	NP_001290334.1:p.Pro178GlnfsTer?
NM_001303406.1:c.531del	NP_001290335.1:p.Pro178GlnfsTer?
NM_001303407.1:c.207del	NP_001290336.1:p.Pro70GlnfsTer?
NM_018294.5:c.942del	NP_060764.3:p.Pro315GlnfsTer?
NM_018294.6:c.942del MANE Select	NP_060764.3:p.Pro315GlnfsTer?
NM_001303404.2:c.942del	NP_001290333.1:p.Pro315GlnfsTer?
NM_001303405.2:c.531del	NP_001290334.1:p.Pro178GlnfsTer?
NM_001303406.2:c.531del	NP_001290335.1:p.Pro178GlnfsTer?
NM_001303407.2:c.207del	NP_001290336.1:p.Pro70GlnfsTer?