Canonical Allele Identifier: CA2580084598

Gene: PC

Linked Data

• ClinVar Variation Id: 1726269
• ClinVar RCV Id: RCV002307240

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66871726_66871727insAAGG , CM000673.2:g.66871726_66871727insAAGG	GRCh38
NC_000011.9:g.66639197_66639198insAAGG , CM000673.1:g.66639197_66639198insAAGG	GRCh37
NC_000011.8:g.66395773_66395774insAAGG	NCBI36
NG_008319.1:g.91650_91651insCCTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000393958.7:c.281_282insCCTT	ENSP00000377530.2:p.Gln94HisfsTer31
ENST00000393960.7:c.281_282insCCTT MANE Select	ENSP00000377532.1:p.Gln94HisfsTer31
ENST00000524491.6:c.281_282insCCTT	ENSP00000434192.2:p.Gln94HisfsTer31
ENST00000525476.2:n.290-21662_290-21661insCCTT
ENST00000528224.2:c.281_282insCCTT	ENSP00000498317.1:p.Gln94HisfsTer31
ENST00000528403.6:c.281_282insCCTT	ENSP00000498816.1:p.Gln94HisfsTer31
ENST00000529047.6:c.281_282insCCTT	ENSP00000435905.2:p.Gln94HisfsTer31
ENST00000651036.1:c.281_282insCCTT	ENSP00000498406.1:p.Gln94HisfsTer31
ENST00000651469.1:c.281_282insCCTT	ENSP00000498712.1:p.Gln94HisfsTer31
ENST00000651854.1:c.281_282insCCTT	ENSP00000498994.1:p.Gln94HisfsTer31
ENST00000652125.1:c.281_282insCCTT	ENSP00000498302.1:p.Gln94HisfsTer31
ENST00000393955.6:c.281_282insCCTT	ENSP00000377527.2:p.Gln94HisfsTer31
ENST00000393958.6:c.281_282insCCTT	ENSP00000377530.2:p.Gln94HisfsTer31
ENST00000393960.5:c.281_282insCCTT	ENSP00000377532.1:p.Gln94HisfsTer31
ENST00000524491.5:c.161_162insCCTT	ENSP00000434192.1:p.Gln54HisfsTer31
ENST00000528403.5:n.557_558insCCTT
ENST00000531614.5:n.483_484insCCTT
ENST00000628663.1:c.161_162insCCTT	ENSP00000486373.1:p.Gln54HisfsTer31
NM_000920.3:c.281_282insCCTT	NP_000911.2:p.Gln94HisfsTer31
NM_001040716.1:c.281_282insCCTT	NP_001035806.1:p.Gln94HisfsTer31
NM_022172.2:c.281_282insCCTT	NP_071504.2:p.Gln94HisfsTer31
XM_005274031.3:c.281_282insCCTT	XP_005274088.1:p.Gln94HisfsTer31
XM_005274032.3:c.281_282insCCTT	XP_005274089.1:p.Gln94HisfsTer31
XM_006718577.2:c.281_282insCCTT	XP_006718640.1:p.Gln94HisfsTer31
XM_006718578.2:c.281_282insCCTT	XP_006718641.1:p.Gln94HisfsTer31
XM_011545085.1:c.281_282insCCTT	XP_011543387.1:p.Gln94HisfsTer31
XM_011545086.1:c.281_282insCCTT	XP_011543388.1:p.Gln94HisfsTer31
XM_005274031.4:c.281_282insCCTT	XP_005274088.1:p.Gln94HisfsTer31
XM_005274032.4:c.281_282insCCTT	XP_005274089.1:p.Gln94HisfsTer31
XM_006718578.3:c.281_282insCCTT	XP_006718641.1:p.Gln94HisfsTer31
XM_011545086.2:c.281_282insCCTT	XP_011543388.1:p.Gln94HisfsTer31
XM_017017868.1:c.281_282insCCTT	XP_016873357.1:p.Gln94HisfsTer31
XM_017017869.1:c.281_282insCCTT	XP_016873358.1:p.Gln94HisfsTer31
XM_017017870.1:c.281_282insCCTT	XP_016873359.1:p.Gln94HisfsTer31
XM_017017871.1:c.281_282insCCTT	XP_016873360.1:p.Gln94HisfsTer31
XM_017017872.2:c.281_282insCCTT	XP_016873361.1:p.Gln94HisfsTer31
NM_000920.4:c.281_282insCCTT	NP_000911.2:p.Gln94HisfsTer31
NM_001040716.2:c.281_282insCCTT MANE Select	NP_001035806.1:p.Gln94HisfsTer31
NM_022172.3:c.281_282insCCTT	NP_071504.2:p.Gln94HisfsTer31