Canonical Allele Identifier: CA2695237187
Gene: CCNQ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153592645_153592661delinsT , CM000685.2:g.153592645_153592661delinsT GRCh38
NC_000023.10:g.152858103_152858119delinsT , CM000685.1:g.152858103_152858119delinsT GRCh37
NC_000023.9:g.152511297_152511313delinsT NCBI36
NG_008393.2:g.11517_11533delinsA

Transcript Alleles

HGVS Amino-acid Change
ENST00000576892.8:c.502_518delinsA MANE Select ENSP00000461135.1:p.Val168SerfsTer?
ENST00000429336.5:c.193+1886_193+1902delinsA
ENST00000440428.5:c.502_518delinsA ENSP00000402949.2:p.Val168SerfsTer?
ENST00000482182.3:c.376_392delinsA ENSP00000466345.1:p.Val126SerfsTer?
ENST00000576892.7:c.502_518delinsA ENSP00000461135.1:p.Val168SerfsTer?
ENST00000614850.1:c.277+3343_277+3359delinsA
ENST00000614851.4:c.323_339delinsA
ENST00000620088.4:c.*378_*394delinsA ENSP00000484108.1:n.*378_*394delinsA
ENST00000621629.4:c.*378_*394delinsA ENSP00000478747.1:n.*378_*394delinsA
ENST00000621817.1:c.*667_*683delinsA ENSP00000481634.1:n.*667_*683delinsA
NM_001130997.2:c.502_518delinsA NP_001124469.1:p.Val168SerfsTer?
NM_152274.4:c.502_518delinsA NP_689487.2:p.Val168SerfsTer?
XM_005277920.3:c.472_488delinsA XP_005277977.1:p.Val158SerfsTer?
XM_005277921.3:c.472_488delinsA XP_005277978.1:p.Val158SerfsTer?
XM_011531213.1:c.376_392delinsA XP_011529515.1:p.Val126SerfsTer?
XM_011531214.1:c.376_392delinsA XP_011529516.1:p.Val126SerfsTer?
XM_011531215.1:c.376_392delinsA XP_011529517.1:p.Val126SerfsTer?
XM_005277920.4:c.472_488delinsA XP_005277977.1:p.Val158SerfsTer?
XM_005277921.4:c.472_488delinsA XP_005277978.1:p.Val158SerfsTer?
XM_011531214.2:c.376_392delinsA XP_011529516.1:p.Val126SerfsTer?
XM_011531215.2:c.376_392delinsA XP_011529517.1:p.Val126SerfsTer?
XR_002958810.1:n.2407_2423delinsA
NM_152274.5:c.502_518delinsA MANE Select NP_689487.2:p.Val168SerfsTer?
NM_001130997.3:c.502_518delinsA NP_001124469.1:p.Val168SerfsTer?