Canonical Allele Identifier: CA1429222155

Gene: CCDC50

Linked Data

• dbSNP Id: rs1713051877

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.191375167_191375177dup , CM000665.2:g.191375167_191375177dup	GRCh38
NC_000003.11:g.191092956_191092966dup , CM000665.1:g.191092956_191092966dup	GRCh37
NC_000003.10:g.192575650_192575660dup	NCBI36
NG_008994.1:g.51083_51093dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392455.9:c.554_564dup MANE Select	ENSP00000376249.4:p.Glu189AsnfsTer?
ENST00000392456.4:c.449-4992_449-4982dup	ENSP00000376250.4:n.449-4992_449-4982dup
ENST00000392455.7:c.449-4992_449-4982dup	ENSP00000376249.3:n.449-4992_449-4982dup
ENST00000392456.3:c.554_564dup	ENSP00000376250.3:p.Glu189AsnfsTer?
NM_174908.3:c.449-4992_449-4982dup	NP_777568.1:n.449-4992_449-4982dup
NM_178335.2:c.554_564dup	NP_848018.1:p.Glu189AsnfsTer?
XM_011512460.1:c.554_564dup	XP_011510762.1:p.Glu189AsnfsTer?
NM_178335.3:c.554_564dup MANE Select	NP_848018.1:p.Glu189AsnfsTer?
NM_174908.4:c.449-4992_449-4982dup	NP_777568.1:n.449-4992_449-4982dup