Canonical Allele Identifier: CA1057746920

Gene: CCDC50

Linked Data

• dbSNP Id: rs1713053411
• gnomAD v3: 3-191375192-GCCAGAA-G
• gnomAD v4: 3-191375192-GCCAGAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.191375194_191375199del , CM000665.2:g.191375194_191375199del	GRCh38
NC_000003.11:g.191092983_191092988del , CM000665.1:g.191092983_191092988del	GRCh37
NC_000003.10:g.192575677_192575682del	NCBI36
NG_008994.1:g.51110_51115del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392455.9:c.581_586del MANE Select	ENSP00000376249.4:p.Pro194_Glu195del
ENST00000392456.4:c.449-4965_449-4960del	ENSP00000376250.4:n.449-4965_449-4960del
ENST00000392455.7:c.449-4965_449-4960del	ENSP00000376249.3:n.449-4965_449-4960del
ENST00000392456.3:c.581_586del	ENSP00000376250.3:p.Pro194_Glu195del
NM_174908.3:c.449-4965_449-4960del	NP_777568.1:n.449-4965_449-4960del
NM_178335.2:c.581_586del	NP_848018.1:p.Pro194_Glu195del
XM_011512460.1:c.581_586del	XP_011510762.1:p.Pro194_Glu195del
NM_178335.3:c.581_586del MANE Select	NP_848018.1:p.Pro194_Glu195del
NM_174908.4:c.449-4965_449-4960del	NP_777568.1:n.449-4965_449-4960del