Canonical Allele Identifier: CA1429201915
Gene: CCDC50 HGNC NCBI

Linked Data

dbSNP Id: rs1712322131

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.191357239dup , CM000665.2:g.191357239dup GRCh38
NC_000003.11:g.191075028dup , CM000665.1:g.191075028dup GRCh37
NC_000003.10:g.192557722dup NCBI36
NG_008994.1:g.33155dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000392455.9:c.112+89dup MANE Select ENSP00000376249.4:n.112+89dup
ENST00000392456.4:c.112+89dup ENSP00000376250.4:n.112+89dup
ENST00000392455.7:c.112+89dup ENSP00000376249.3:n.112+89dup
ENST00000392456.3:c.112+89dup ENSP00000376250.3:n.112+89dup
NM_174908.3:c.112+89dup NP_777568.1:n.112+89dup
NM_178335.2:c.112+89dup NP_848018.1:n.112+89dup
XM_011512460.1:c.112+89dup XP_011510762.1:n.112+89dup
NM_178335.3:c.112+89dup MANE Select NP_848018.1:n.112+89dup
NM_174908.4:c.112+89dup NP_777568.1:n.112+89dup