Canonical Allele Identifier: CA2755271
Gene: CCDC50 HGNC NCBI

Linked Data

dbSNP Id: rs763544779
ExAC: 3:191092897 A / AT
gnomAD v2: 3-191092897-A-AT
gnomAD v4: 3-191375108-A-AT
MyVariant Identifiers: chr3:g.191092897_191092898insT (hg19) chr3:g.191375108_191375109insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.191375108_191375109insT , CM000665.2:g.191375108_191375109insT GRCh38
NC_000003.11:g.191092897_191092898insT , CM000665.1:g.191092897_191092898insT GRCh37
NC_000003.10:g.192575591_192575592insT NCBI36
NG_008994.1:g.51024_51025insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000392455.9:c.495_496insT MANE Select ENSP00000376249.4:p.Arg166Ter
ENST00000392456.4:c.449-5051_449-5050insT ENSP00000376250.4:n.449-5051_449-5050insT
ENST00000392455.7:c.449-5051_449-5050insT ENSP00000376249.3:n.449-5051_449-5050insT
ENST00000392456.3:c.495_496insT ENSP00000376250.3:p.Arg166Ter
NM_174908.3:c.449-5051_449-5050insT NP_777568.1:n.449-5051_449-5050insT
NM_178335.2:c.495_496insT NP_848018.1:p.Arg166Ter
XM_011512460.1:c.495_496insT XP_011510762.1:p.Arg166Ter
NM_178335.3:c.495_496insT MANE Select NP_848018.1:p.Arg166Ter
NM_174908.4:c.449-5051_449-5050insT NP_777568.1:n.449-5051_449-5050insT
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