Canonical Allele Identifier: CA873269545

Gene: CCNQ

Linked Data

• dbSNP Id: rs1307824936
• gnomAD v3: X-153592530-G-GGAGA
• gnomAD v4: X-153592530-G-GGAGA
• MyVariant Identifiers: chrX:g.153592530_153592531insGAGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153592530_153592531insGAGA , CM000685.2:g.153592530_153592531insGAGA	GRCh38
NC_000023.10:g.152857988_152857989insGAGA , CM000685.1:g.152857988_152857989insGAGA	GRCh37
NC_000023.9:g.152511182_152511183insGAGA	NCBI36
NG_008393.2:g.11647_11648insTCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576892.8:c.632_633insTCTC MANE Select	ENSP00000461135.1:p.Glu212LeufsTer4
ENST00000429336.5:c.193+2016_193+2017insTCTC
ENST00000440428.5:c.632_633insTCTC	ENSP00000402949.2:p.Glu212LeufsTer4
ENST00000576892.7:c.632_633insTCTC	ENSP00000461135.1:p.Glu212LeufsTer4
ENST00000614850.1:c.277+3473_277+3474insTCTC
ENST00000614851.4:c.453_454insTCTC
ENST00000620088.4:c.*508_*509insTCTC	ENSP00000484108.1:n.*508_*509insTCTC
ENST00000621629.4:c.*508_*509insTCTC	ENSP00000478747.1:n.*508_*509insTCTC
NM_001130997.2:c.632_633insTCTC	NP_001124469.1:p.Glu212LeufsTer4
NM_152274.4:c.632_633insTCTC	NP_689487.2:p.Glu212LeufsTer4
XM_005277920.3:c.602_603insTCTC	XP_005277977.1:p.Glu202LeufsTer4
XM_005277921.3:c.602_603insTCTC	XP_005277978.1:p.Glu202LeufsTer4
XM_011531213.1:c.506_507insTCTC	XP_011529515.1:p.Glu170LeufsTer4
XM_011531214.1:c.506_507insTCTC	XP_011529516.1:p.Glu170LeufsTer4
XM_011531215.1:c.506_507insTCTC	XP_011529517.1:p.Glu170LeufsTer4
XM_005277920.4:c.602_603insTCTC	XP_005277977.1:p.Glu202LeufsTer4
XM_005277921.4:c.602_603insTCTC	XP_005277978.1:p.Glu202LeufsTer4
XM_011531214.2:c.506_507insTCTC	XP_011529516.1:p.Glu170LeufsTer4
XM_011531215.2:c.506_507insTCTC	XP_011529517.1:p.Glu170LeufsTer4
XR_002958810.1:n.2537_2538insTCTC
NM_152274.5:c.632_633insTCTC MANE Select	NP_689487.2:p.Glu212LeufsTer4
NM_001130997.3:c.632_633insTCTC	NP_001124469.1:p.Glu212LeufsTer4