Canonical Allele Identifier: CA917888782
Gene: CCDC170 HGNC NCBI

Linked Data

dbSNP Id: rs1562302264
gnomAD v4: 6-151618116-AC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.151618119del , CM000668.2:g.151618119del GRCh38
NC_000006.11:g.151939254del , CM000668.1:g.151939254del GRCh37
NC_000006.10:g.151980947del NCBI36
NG_021198.1:g.129080del

Transcript Alleles

HGVS Amino-acid Change
ENST00000239374.8:c.2120del MANE Select ENSP00000239374.6:p.Pro707HisfsTer15
ENST00000239374.7:c.2120del ENSP00000239374.6:p.Pro707HisfsTer15
NM_025059.3:c.2120del NP_079335.2:p.Pro707HisfsTer15
XM_011536147.1:c.2138del XP_011534449.1:p.Pro713HisfsTer15
XM_011536148.1:c.1937del XP_011534450.1:p.Pro646HisfsTer15
XM_011536147.2:c.2138del XP_011534449.1:p.Pro713HisfsTer15
XM_011536148.2:c.1937del XP_011534450.1:p.Pro646HisfsTer15
NM_025059.4:c.2120del MANE Select NP_079335.2:p.Pro707HisfsTer15
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