Canonical Allele Identifier: CA2755277

Gene: CCDC50

Linked Data

• ClinVar Variation Id: 1440070
• ClinVar RCV Id: RCV001936789
• dbSNP Id: rs774230614
• ExAC: 3:191092929 CTG / C
• gnomAD v2: 3-191092929-CTG-C
• gnomAD v4: 3-191375140-CTG-C
• MyVariant Identifiers: chr3:g.191092930_191092931del (hg19) ; chr3:g.191375141_191375142del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.191375143_191375144del , CM000665.2:g.191375143_191375144del	GRCh38
NC_000003.11:g.191092932_191092933del , CM000665.1:g.191092932_191092933del	GRCh37
NC_000003.10:g.192575626_192575627del	NCBI36
NG_008994.1:g.51059_51060del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392455.9:c.530_531del MANE Select	ENSP00000376249.4:p.Val177GlufsTer?
ENST00000392456.4:c.449-5016_449-5015del	ENSP00000376250.4:n.449-5016_449-5015del
ENST00000392455.7:c.449-5016_449-5015del	ENSP00000376249.3:n.449-5016_449-5015del
ENST00000392456.3:c.530_531del	ENSP00000376250.3:p.Val177GlufsTer?
NM_174908.3:c.449-5016_449-5015del	NP_777568.1:n.449-5016_449-5015del
NM_178335.2:c.530_531del	NP_848018.1:p.Val177GlufsTer?
XM_011512460.1:c.530_531del	XP_011510762.1:p.Val177GlufsTer?
NM_178335.3:c.530_531del MANE Select	NP_848018.1:p.Val177GlufsTer?
NM_174908.4:c.449-5016_449-5015del	NP_777568.1:n.449-5016_449-5015del