Canonical Allele Identifier: CA10548368

Gene: CCNQ

Linked Data

• dbSNP Id: rs782267075
• ExAC: X:152857913 G / GACTTCCAGAGGGAAAGGGGGC
• gnomAD v2: X-152857913-G-GACTTCCAGAGGGAAAGGGGGC
• gnomAD v3: X-153592455-G-GACTTCCAGAGGGAAAGGGGGC
• gnomAD v4: X-153592455-G-GACTTCCAGAGGGAAAGGGGGC
• MyVariant Identifiers: chrX:g.152857913_152857914insACTTCCAGAGGGAAAGGGGGC (hg19) ; chrX:g.153592455_153592456insACTTCCAGAGGGAAAGGGGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153592458_153592478dup , CM000685.2:g.153592458_153592478dup	GRCh38
NC_000023.10:g.152857916_152857936dup , CM000685.1:g.152857916_152857936dup	GRCh37
NC_000023.9:g.152511110_152511130dup	NCBI36
NG_008393.2:g.11702_11722dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576892.8:c.657+30_657+50dup MANE Select	ENSP00000461135.1:n.657+30_657+50dup
ENST00000429336.5:c.193+2071_193+2091dup
ENST00000440428.5:c.657+30_657+50dup	ENSP00000402949.2:n.657+30_657+50dup
ENST00000576892.7:c.657+30_657+50dup	ENSP00000461135.1:n.657+30_657+50dup
ENST00000614850.1:c.277+3528_277+3548dup
ENST00000614851.4:c.478+30_478+50dup
ENST00000620088.4:c.*533+30_*533+50dup	ENSP00000484108.1:n.*533+30_*533+50dup
ENST00000621629.4:c.*533+30_*533+50dup	ENSP00000478747.1:n.*533+30_*533+50dup
NM_001130997.2:c.657+30_657+50dup	NP_001124469.1:n.657+30_657+50dup
NM_152274.4:c.657+30_657+50dup	NP_689487.2:n.657+30_657+50dup
XM_005277920.3:c.627+30_627+50dup	XP_005277977.1:n.627+30_627+50dup
XM_005277921.3:c.627+30_627+50dup	XP_005277978.1:n.627+30_627+50dup
XM_011531213.1:c.531+30_531+50dup	XP_011529515.1:n.531+30_531+50dup
XM_011531214.1:c.531+30_531+50dup	XP_011529516.1:n.531+30_531+50dup
XM_011531215.1:c.531+30_531+50dup	XP_011529517.1:n.531+30_531+50dup
XM_005277920.4:c.627+30_627+50dup	XP_005277977.1:n.627+30_627+50dup
XM_005277921.4:c.627+30_627+50dup	XP_005277978.1:n.627+30_627+50dup
XM_011531214.2:c.531+30_531+50dup	XP_011529516.1:n.531+30_531+50dup
XM_011531215.2:c.531+30_531+50dup	XP_011529517.1:n.531+30_531+50dup
XR_002958810.1:n.2562+30_2562+50dup
NM_152274.5:c.657+30_657+50dup MANE Select	NP_689487.2:n.657+30_657+50dup
NM_001130997.3:c.657+30_657+50dup	NP_001124469.1:n.657+30_657+50dup