Canonical Allele Identifier: CA1057746922

Gene: CCDC50

Linked Data

• dbSNP Id: rs1713053779
• gnomAD v3: 3-191375198-A-ATT
• gnomAD v4: 3-191375198-A-ATT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.191375198_191375199insTT , CM000665.2:g.191375198_191375199insTT	GRCh38
NC_000003.11:g.191092987_191092988insTT , CM000665.1:g.191092987_191092988insTT	GRCh37
NC_000003.10:g.192575681_192575682insTT	NCBI36
NG_008994.1:g.51114_51115insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392455.9:c.585_586insTT MANE Select	ENSP00000376249.4:p.Gln196PhefsTer?
ENST00000392456.4:c.449-4961_449-4960insTT	ENSP00000376250.4:n.449-4961_449-4960insTT
ENST00000392455.7:c.449-4961_449-4960insTT	ENSP00000376249.3:n.449-4961_449-4960insTT
ENST00000392456.3:c.585_586insTT	ENSP00000376250.3:p.Gln196PhefsTer?
NM_174908.3:c.449-4961_449-4960insTT	NP_777568.1:n.449-4961_449-4960insTT
NM_178335.2:c.585_586insTT	NP_848018.1:p.Gln196PhefsTer?
XM_011512460.1:c.585_586insTT	XP_011510762.1:p.Gln196PhefsTer?
NM_178335.3:c.585_586insTT MANE Select	NP_848018.1:p.Gln196PhefsTer?
NM_174908.4:c.449-4961_449-4960insTT	NP_777568.1:n.449-4961_449-4960insTT