Canonical Allele Identifier: CA89772273
Gene: CCDC50 HGNC NCBI

Linked Data

dbSNP Id: rs35377745
gnomAD v2: 3-191074783-A-AT
gnomAD v3: 3-191356994-A-AT
gnomAD v4: 3-191356994-A-AT
MyVariant Identifiers: chr3:g.191074784_191074785insT (hg19) chr3:g.191074783_191074784insT (hg19) chr3:g.191356995_191356996insT (hg38) chr3:g.191356994_191356995insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.191357002dup , CM000665.2:g.191357002dup GRCh38
NC_000003.11:g.191074791dup , CM000665.1:g.191074791dup GRCh37
NC_000003.10:g.192557485dup NCBI36
NG_008994.1:g.32918dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000392455.9:c.50-86dup MANE Select ENSP00000376249.4:n.50-86dup
ENST00000392456.4:c.50-86dup ENSP00000376250.4:n.50-86dup
ENST00000392455.7:c.50-86dup ENSP00000376249.3:n.50-86dup
ENST00000392456.3:c.50-86dup ENSP00000376250.3:n.50-86dup
NM_174908.3:c.50-86dup NP_777568.1:n.50-86dup
NM_178335.2:c.50-86dup NP_848018.1:n.50-86dup
XM_011512460.1:c.50-86dup XP_011510762.1:n.50-86dup
NM_178335.3:c.50-86dup MANE Select NP_848018.1:n.50-86dup
NM_174908.4:c.50-86dup NP_777568.1:n.50-86dup
Search 100 bp 5'
Search 100 bp 3'