Canonical Allele Identifier: CA16619384
Gene: PC HGNC NCBI

Linked Data

ClinVar Variation Id: 422831
ClinVar RCV Id: RCV000483564
dbSNP Id: rs1064796030

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66866329del , CM000673.2:g.66866329del GRCh38
NC_000011.9:g.66633800del , CM000673.1:g.66633800del GRCh37
NC_000011.8:g.66390376del NCBI36
NG_008319.1:g.97048del

Transcript Alleles

HGVS Amino-acid change
ENST00000393958.7:c.1043del ENSP00000377530.2:p.Gln348ArgfsTer?
ENST00000393960.7:c.1043del MANE Select ENSP00000377532.1:p.Gln348ArgfsTer?
ENST00000524491.6:c.1043del ENSP00000434192.2:p.Gln348ArgfsTer?
ENST00000525476.2:n.290-16264del
ENST00000528224.2:c.1043del ENSP00000498317.1:p.Gln348ArgfsTer?
ENST00000528403.6:c.1043del ENSP00000498816.1:p.Gln348ArgfsTer?
ENST00000529047.6:c.1043del ENSP00000435905.2:p.Gln348ArgfsTer?
ENST00000651036.1:c.1043del ENSP00000498406.1:p.Gln348ArgfsTer?
ENST00000651469.1:c.1043del ENSP00000498712.1:p.Gln348ArgfsTer?
ENST00000651854.1:c.1043del ENSP00000498994.1:p.Gln348ArgfsTer?
ENST00000652125.1:c.1043del ENSP00000498302.1:p.Gln348ArgfsTer?
ENST00000393955.6:c.1043del ENSP00000377527.2:p.Gln348ArgfsTer?
ENST00000393958.6:c.1043del ENSP00000377530.2:p.Gln348ArgfsTer?
ENST00000393960.5:c.1043del ENSP00000377532.1:p.Gln348ArgfsTer?
ENST00000524491.5:c.923del ENSP00000434192.1:p.Gln308ArgfsTer?
ENST00000628663.1:c.923del ENSP00000486373.1:p.Gln308ArgfsTer?
NM_000920.3:c.1043del NP_000911.2:p.Gln348ArgfsTer?
NM_001040716.1:c.1043del NP_001035806.1:p.Gln348ArgfsTer?
NM_022172.2:c.1043del NP_071504.2:p.Gln348ArgfsTer?
XM_005274031.3:c.1043del XP_005274088.1:p.Gln348ArgfsTer?
XM_005274032.3:c.1043del XP_005274089.1:p.Gln348ArgfsTer?
XM_006718577.2:c.1043del XP_006718640.1:p.Gln348ArgfsTer?
XM_006718578.2:c.1043del XP_006718641.1:p.Gln348ArgfsTer?
XM_011545085.1:c.1043del XP_011543387.1:p.Gln348ArgfsTer?
XM_011545086.1:c.1043del XP_011543388.1:p.Gln348ArgfsTer?
XM_005274031.4:c.1043del XP_005274088.1:p.Gln348ArgfsTer?
XM_005274032.4:c.1043del XP_005274089.1:p.Gln348ArgfsTer?
XM_006718578.3:c.1043del XP_006718641.1:p.Gln348ArgfsTer?
XM_011545086.2:c.1043del XP_011543388.1:p.Gln348ArgfsTer?
XM_017017868.1:c.1043del XP_016873357.1:p.Gln348ArgfsTer?
XM_017017869.1:c.1043del XP_016873358.1:p.Gln348ArgfsTer?
XM_017017870.1:c.1043del XP_016873359.1:p.Gln348ArgfsTer?
XM_017017871.1:c.1043del XP_016873360.1:p.Gln348ArgfsTer?
XM_017017872.2:c.1043del XP_016873361.1:p.Gln348ArgfsTer?
NM_000920.4:c.1043del NP_000911.2:p.Gln348ArgfsTer?
NM_001040716.2:c.1043del MANE Select NP_001035806.1:p.Gln348ArgfsTer?
NM_022172.3:c.1043del NP_071504.2:p.Gln348ArgfsTer?