Canonical Allele Identifier: CA2740093079
Gene: PC HGNC NCBI

Linked Data

ClinVar Variation Id: 3017146
ClinVar RCV Id: RCV003871265

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66850482_66850487del , CM000673.2:g.66850482_66850487del GRCh38
NC_000011.9:g.66617953_66617958del , CM000673.1:g.66617953_66617958del GRCh37
NC_000011.8:g.66374529_66374534del NCBI36
NG_008319.1:g.112895_112900del

Transcript Alleles

HGVS Amino-acid Change
ENST00000393958.7:c.2474-18_2474-13del ENSP00000377530.2:n.2474-18_2474-13del
ENST00000393960.7:c.2474-18_2474-13del MANE Select ENSP00000377532.1:n.2474-18_2474-13del
ENST00000525476.2:n.290-417_290-412del
ENST00000528224.2:c.*483-18_*483-13del ENSP00000498317.1:n.*483-18_*483-13del
ENST00000529047.6:c.2474-18_2474-13del ENSP00000435905.2:n.2474-18_2474-13del
ENST00000651036.1:c.2474-18_2474-13del ENSP00000498406.1:n.2474-18_2474-13del
ENST00000651469.1:c.*950-18_*950-13del ENSP00000498712.1:n.*950-18_*950-13del
ENST00000651854.1:c.2474-18_2474-13del ENSP00000498994.1:n.2474-18_2474-13del
ENST00000652125.1:c.2474-18_2474-13del ENSP00000498302.1:n.2474-18_2474-13del
ENST00000393955.6:c.2474-18_2474-13del ENSP00000377527.2:n.2474-18_2474-13del
ENST00000393958.6:c.2474-18_2474-13del ENSP00000377530.2:n.2474-18_2474-13del
ENST00000393960.5:c.2474-18_2474-13del ENSP00000377532.1:n.2474-18_2474-13del
NM_000920.3:c.2474-18_2474-13del NP_000911.2:n.2474-18_2474-13del
NM_001040716.1:c.2474-18_2474-13del NP_001035806.1:n.2474-18_2474-13del
NM_022172.2:c.2474-18_2474-13del NP_071504.2:n.2474-18_2474-13del
XM_005274031.3:c.2474-18_2474-13del XP_005274088.1:n.2474-18_2474-13del
XM_005274032.3:c.2474-18_2474-13del XP_005274089.1:n.2474-18_2474-13del
XM_006718577.2:c.2474-18_2474-13del XP_006718640.1:n.2474-18_2474-13del
XM_006718578.2:c.2474-18_2474-13del XP_006718641.1:n.2474-18_2474-13del
XM_006718579.2:c.953-18_953-13del XP_006718642.1:n.953-18_953-13del
XM_011545085.1:c.2474-18_2474-13del XP_011543387.1:n.2474-18_2474-13del
XM_011545086.1:c.2474-18_2474-13del XP_011543388.1:n.2474-18_2474-13del
XM_011545087.1:c.1178-18_1178-13del XP_011543389.1:n.1178-18_1178-13del
XM_011545088.1:c.1109-18_1109-13del XP_011543390.1:n.1109-18_1109-13del
XM_005274031.4:c.2474-18_2474-13del XP_005274088.1:n.2474-18_2474-13del
XM_005274032.4:c.2474-18_2474-13del XP_005274089.1:n.2474-18_2474-13del
XM_006718578.3:c.2474-18_2474-13del XP_006718641.1:n.2474-18_2474-13del
XM_006718579.3:c.953-18_953-13del XP_006718642.1:n.953-18_953-13del
XM_011545086.2:c.2474-18_2474-13del XP_011543388.1:n.2474-18_2474-13del
XM_011545087.2:c.1178-18_1178-13del XP_011543389.1:n.1178-18_1178-13del
XM_017017868.1:c.2474-18_2474-13del XP_016873357.1:n.2474-18_2474-13del
XM_017017869.1:c.2474-18_2474-13del XP_016873358.1:n.2474-18_2474-13del
XM_017017870.1:c.2474-18_2474-13del XP_016873359.1:n.2474-18_2474-13del
XM_017017871.1:c.2474-18_2474-13del XP_016873360.1:n.2474-18_2474-13del
XM_017017872.2:c.2474-18_2474-13del XP_016873361.1:n.2474-18_2474-13del
NM_000920.4:c.2474-18_2474-13del NP_000911.2:n.2474-18_2474-13del
NM_001040716.2:c.2474-18_2474-13del MANE Select NP_001035806.1:n.2474-18_2474-13del
NM_022172.3:c.2474-18_2474-13del NP_071504.2:n.2474-18_2474-13del