Canonical Allele Identifier: CA904368525
Gene: CCDC50 HGNC NCBI

Linked Data

dbSNP Id: rs1373735456
gnomAD v3: 3-191375218-G-GA
gnomAD v4: 3-191375218-G-GA
MyVariant Identifiers: chr3:g.191093007_191093008insA (hg19) chr3:g.191375218_191375219insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.191375219dup , CM000665.2:g.191375219dup GRCh38
NC_000003.11:g.191093008dup , CM000665.1:g.191093008dup GRCh37
NC_000003.10:g.192575702dup NCBI36
NG_008994.1:g.51135dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000392455.9:c.606dup MANE Select ENSP00000376249.4:p.Ser203IlefsTer6
ENST00000392456.4:c.449-4940dup ENSP00000376250.4:n.449-4940dup
ENST00000392455.7:c.449-4940dup ENSP00000376249.3:n.449-4940dup
ENST00000392456.3:c.606dup ENSP00000376250.3:p.Ser203IlefsTer6
NM_174908.3:c.449-4940dup NP_777568.1:n.449-4940dup
NM_178335.2:c.606dup NP_848018.1:p.Ser203IlefsTer6
XM_011512460.1:c.606dup XP_011510762.1:p.Ser203IlefsTer6
NM_178335.3:c.606dup MANE Select NP_848018.1:p.Ser203IlefsTer6
NM_174908.4:c.449-4940dup NP_777568.1:n.449-4940dup
Search 100 bp 5'
Search 100 bp 3'