Canonical Allele Identifier: CA2755282
Gene: CCDC50 HGNC NCBI

Linked Data

dbSNP Id: rs759694223
ExAC: 3:191092964 C / CT
gnomAD v2: 3-191092964-C-CT
gnomAD v3: 3-191375175-C-CT
gnomAD v4: 3-191375175-C-CT
MyVariant Identifiers: chr3:g.191092964_191092965insT (hg19) chr3:g.191375175_191375176insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.191375176dup , CM000665.2:g.191375176dup GRCh38
NC_000003.11:g.191092965dup , CM000665.1:g.191092965dup GRCh37
NC_000003.10:g.192575659dup NCBI36
NG_008994.1:g.51092dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000392455.9:c.563dup MANE Select ENSP00000376249.4:p.Glu189GlyfsTer20
ENST00000392456.4:c.449-4983dup ENSP00000376250.4:n.449-4983dup
ENST00000392455.7:c.449-4983dup ENSP00000376249.3:n.449-4983dup
ENST00000392456.3:c.563dup ENSP00000376250.3:p.Glu189GlyfsTer20
NM_174908.3:c.449-4983dup NP_777568.1:n.449-4983dup
NM_178335.2:c.563dup NP_848018.1:p.Glu189GlyfsTer20
XM_011512460.1:c.563dup XP_011510762.1:p.Glu189GlyfsTer20
NM_178335.3:c.563dup MANE Select NP_848018.1:p.Glu189GlyfsTer20
NM_174908.4:c.449-4983dup NP_777568.1:n.449-4983dup
Search 100 bp 5'
Search 100 bp 3'