Canonical Allele Identifier: CA2610242050

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94328016_94328018del , CM000672.2:g.94328016_94328018del GRCh38
NC_000010.10:g.96087773_96087775del , CM000672.1:g.96087773_96087775del GRCh37
NC_000010.9:g.96077763_96077765del NCBI36
NG_015799.1:g.339028_339030del

Transcript Alleles

HGVS Amino-acid change
ENST00000371375.2:c.8921_8923del (PLCE1) ENSP00000360426.1:n.8921_8923del
ENST00000688810.1:c.6010_6012del (PLCE1) ENSP00000509140.1:n.6010_6012del
ENST00000690340.1:n.4626_4628del (PLCE1)
ENST00000692396.1:c.*73_*75del (PLCE1) ENSP00000508605.1:n.*73_*75del
ENST00000371380.8:c.*73_*75del (PLCE1) MANE Select ENSP00000360431.2:n.*73_*75del
ENST00000371385.8:c.*73_*75del (PLCE1) ENSP00000360438.4:n.*73_*75del
ENST00000675218.1:c.6058_6060del (PLCE1) ENSP00000501910.1:n.6058_6060del
ENST00000675487.1:c.*2915_*2917del (PLCE1) ENSP00000502340.1:n.*2915_*2917del
ENST00000260766.7:c.*73_*75del (PLCE1) ENSP00000260766.3:n.*73_*75del
ENST00000371380.7:c.*73_*75del (PLCE1) ENSP00000360431.2:n.*73_*75del
ENST00000371385.7:c.*73_*75del (PLCE1) ENSP00000360438.3:n.*73_*75del
NM_001165979.2:c.*73_*75del (PLCE1) NP_001159451.1:n.*73_*75del
NM_001288989.1:c.*73_*75del (PLCE1) NP_001275918.1:n.*73_*75del
NM_016341.3:c.*73_*75del (PLCE1) NP_057425.3:n.*73_*75del
XM_006717885.2:c.*73_*75del (PLCE1) XP_006717948.1:n.*73_*75del
XM_006717888.2:c.*73_*75del (PLCE1) XP_006717951.1:n.*73_*75del
XM_006717889.2:c.*73_*75del (PLCE1) XP_006717952.1:n.*73_*75del
XM_006717890.1:c.*73_*75del (PLCE1) XP_006717953.1:n.*73_*75del
XM_011539849.1:c.*73_*75del (PLCE1) XP_011538151.1:n.*73_*75del
XM_011539850.1:c.*73_*75del (PLCE1) XP_011538152.1:n.*73_*75del
XR_945799.1:n.3310+5372_3310+5374del (NOC3L)
XM_006717885.4:c.*73_*75del (PLCE1) XP_006717948.1:n.*73_*75del
XM_006717888.4:c.*73_*75del (PLCE1) XP_006717951.1:n.*73_*75del
XM_006717889.4:c.*73_*75del (PLCE1) XP_006717952.1:n.*73_*75del
XM_006717890.3:c.*73_*75del (PLCE1) XP_006717953.1:n.*73_*75del
XM_011539849.3:c.*73_*75del (PLCE1) XP_011538151.1:n.*73_*75del
XM_011539850.3:c.*73_*75del (PLCE1) XP_011538152.1:n.*73_*75del
XM_017016310.2:c.*73_*75del (PLCE1) XP_016871799.1:n.*73_*75del
XM_017016312.2:c.*73_*75del (PLCE1) XP_016871801.1:n.*73_*75del
XR_002957007.1:n.3311+5372_3311+5374del (NOC3L)
NM_001288989.2:c.*73_*75del (PLCE1) NP_001275918.1:n.*73_*75del
NM_016341.4:c.*73_*75del (PLCE1) MANE Select NP_057425.3:n.*73_*75del