Canonical Allele Identifier: CA2602661417

Gene: CCNQ

Linked Data

• gnomAD v3: X-153592556-AG-A
• gnomAD v4: X-153592556-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153592557del , CM000685.2:g.153592557del	GRCh38
NC_000023.10:g.152858015del , CM000685.1:g.152858015del	GRCh37
NC_000023.9:g.152511209del	NCBI36
NG_008393.2:g.11621del

Transcript Alleles

HGVS	Amino-acid change
ENST00000576892.8:c.606del MANE Select	ENSP00000461135.1:p.Tyr203ThrfsTer?
ENST00000429336.5:c.193+1990del
ENST00000440428.5:c.606del	ENSP00000402949.2:p.Tyr203ThrfsTer?
ENST00000576892.7:c.606del	ENSP00000461135.1:p.Tyr203ThrfsTer?
ENST00000614850.1:c.277+3447del
ENST00000614851.4:c.427del
ENST00000620088.4:c.*482del	ENSP00000484108.1:n.*482del
ENST00000621629.4:c.*482del	ENSP00000478747.1:n.*482del
NM_001130997.2:c.606del	NP_001124469.1:p.Tyr203ThrfsTer?
NM_152274.4:c.606del	NP_689487.2:p.Tyr203ThrfsTer?
XM_005277920.3:c.576del	XP_005277977.1:p.Tyr193ThrfsTer?
XM_005277921.3:c.576del	XP_005277978.1:p.Tyr193ThrfsTer?
XM_011531213.1:c.480del	XP_011529515.1:p.Tyr161ThrfsTer?
XM_011531214.1:c.480del	XP_011529516.1:p.Tyr161ThrfsTer?
XM_011531215.1:c.480del	XP_011529517.1:p.Tyr161ThrfsTer?
XM_005277920.4:c.576del	XP_005277977.1:p.Tyr193ThrfsTer?
XM_005277921.4:c.576del	XP_005277978.1:p.Tyr193ThrfsTer?
XM_011531214.2:c.480del	XP_011529516.1:p.Tyr161ThrfsTer?
XM_011531215.2:c.480del	XP_011529517.1:p.Tyr161ThrfsTer?
XR_002958810.1:n.2511del
NM_152274.5:c.606del MANE Select	NP_689487.2:p.Tyr203ThrfsTer?
NM_001130997.3:c.606del	NP_001124469.1:p.Tyr203ThrfsTer?