Canonical Allele Identifier: CA2976077812
Community Standard Title: NM_001040716.2(PC):c.1406_1407del (p.Gln469ProfsTer?)
Gene: PC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66853345_66853346del , CM000673.2:g.66853345_66853346del GRCh38
NC_000011.9:g.66620816_66620817del , CM000673.1:g.66620816_66620817del GRCh37
NC_000011.8:g.66377392_66377393del NCBI36
NG_008319.1:g.110031_110032del

Transcript Alleles

HGVS Amino-acid Change
NM_001040716.2:c.1406_1407del MANE Select NP_001035806.1:p.Gln469ProfsTer?
ENST00000393960.7:c.1406_1407del MANE Select ENSP00000377532.1:p.Gln469ProfsTer?
NM_000920.3:c.1406_1407del NP_000911.2:p.Gln469ProfsTer?
NM_000920.4:c.1406_1407del NP_000911.2:p.Gln469ProfsTer?
NM_001040716.1:c.1406_1407del NP_001035806.1:p.Gln469ProfsTer?
NM_022172.2:c.1406_1407del NP_071504.2:p.Gln469ProfsTer?
NM_022172.3:c.1406_1407del NP_071504.2:p.Gln469ProfsTer?
ENST00000393955.6:c.1406_1407del ENSP00000377527.2:p.Gln469ProfsTer?
ENST00000393958.6:c.1406_1407del ENSP00000377530.2:p.Gln469ProfsTer?
ENST00000393958.7:c.1406_1407del ENSP00000377530.2:p.Gln469ProfsTer?
ENST00000393960.5:c.1406_1407del ENSP00000377532.1:p.Gln469ProfsTer?
ENST00000525476.2:n.290-3281_290-3280del
ENST00000528224.2:c.1406_1407del ENSP00000498317.1:p.Gln469ProfsTer?
ENST00000528403.6:c.1406_1407del ENSP00000498816.1:p.Gln469ProfsTer?
ENST00000529047.6:c.1406_1407del ENSP00000435905.2:p.Gln469ProfsTer?
ENST00000651036.1:c.1406_1407del ENSP00000498406.1:p.Gln469ProfsTer?
ENST00000651469.1:c.1474_1475del ENSP00000498712.1:p.Ser492GlnfsTer?
ENST00000651831.1:n.232_233del
ENST00000651854.1:c.1406_1407del ENSP00000498994.1:p.Gln469ProfsTer?
ENST00000652125.1:c.1406_1407del ENSP00000498302.1:p.Gln469ProfsTer?
ENST00000652387.1:n.269_270del
XM_005274031.3:c.1406_1407del XP_005274088.1:p.Gln469ProfsTer?
XM_005274031.4:c.1406_1407del XP_005274088.1:p.Gln469ProfsTer?
XM_005274032.3:c.1406_1407del XP_005274089.1:p.Gln469ProfsTer?
XM_005274032.4:c.1406_1407del XP_005274089.1:p.Gln469ProfsTer?
XM_006718577.2:c.1406_1407del XP_006718640.1:p.Gln469ProfsTer?
XM_006718578.2:c.1406_1407del XP_006718641.1:p.Gln469ProfsTer?
XM_006718578.3:c.1406_1407del XP_006718641.1:p.Gln469ProfsTer?
XM_006718579.2:c.-116_-115del XP_006718642.1:n.-116_-115del
XM_006718579.3:c.-116_-115del XP_006718642.1:n.-116_-115del
XM_011545085.1:c.1406_1407del XP_011543387.1:p.Gln469ProfsTer?
XM_011545086.1:c.1406_1407del XP_011543388.1:p.Gln469ProfsTer?
XM_011545086.2:c.1406_1407del XP_011543388.1:p.Gln469ProfsTer?
XM_011545087.1:c.110_111del XP_011543389.1:p.Gln37ProfsTer?
XM_011545087.2:c.110_111del XP_011543389.1:p.Gln37ProfsTer?
XM_011545088.1:c.41_42del XP_011543390.1:p.Gln14ProfsTer?
XM_017017868.1:c.1406_1407del XP_016873357.1:p.Gln469ProfsTer?
XM_017017869.1:c.1406_1407del XP_016873358.1:p.Gln469ProfsTer?
XM_017017870.1:c.1406_1407del XP_016873359.1:p.Gln469ProfsTer?
XM_017017871.1:c.1406_1407del XP_016873360.1:p.Gln469ProfsTer?
XM_017017872.2:c.1406_1407del XP_016873361.1:p.Gln469ProfsTer?