Canonical Allele Identifier: CA2755275
Gene: CCDC50 HGNC NCBI

Linked Data

dbSNP Id: rs761071030
ExAC: 3:191092921 T / TGG
gnomAD v2: 3-191092921-T-TGG
gnomAD v3: 3-191375132-T-TGG
gnomAD v4: 3-191375132-T-TGG
MyVariant Identifiers: chr3:g.191092921_191092922insGG (hg19) chr3:g.191375132_191375133insGG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.191375133_191375134dup , CM000665.2:g.191375133_191375134dup GRCh38
NC_000003.11:g.191092922_191092923dup , CM000665.1:g.191092922_191092923dup GRCh37
NC_000003.10:g.192575616_192575617dup NCBI36
NG_008994.1:g.51049_51050dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000392455.9:c.520_521dup MANE Select ENSP00000376249.4:p.Lys175GlufsTer4
ENST00000392456.4:c.449-5026_449-5025dup ENSP00000376250.4:n.449-5026_449-5025dup
ENST00000392455.7:c.449-5026_449-5025dup ENSP00000376249.3:n.449-5026_449-5025dup
ENST00000392456.3:c.520_521dup ENSP00000376250.3:p.Lys175GlufsTer4
NM_174908.3:c.449-5026_449-5025dup NP_777568.1:n.449-5026_449-5025dup
NM_178335.2:c.520_521dup NP_848018.1:p.Lys175GlufsTer4
XM_011512460.1:c.520_521dup XP_011510762.1:p.Lys175GlufsTer4
NM_178335.3:c.520_521dup MANE Select NP_848018.1:p.Lys175GlufsTer4
NM_174908.4:c.449-5026_449-5025dup NP_777568.1:n.449-5026_449-5025dup
Search 100 bp 5'
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