Canonical Allele Identifier: CA3252638966
Community Standard Title: NM_024675.4(PALB2):c.152_154del (p.Thr51_Val52delinsIle)
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23637907_23637909del , CM000678.2:g.23637907_23637909del GRCh38
NC_000016.9:g.23649228_23649230del , CM000678.1:g.23649228_23649230del GRCh37
NC_000016.8:g.23556729_23556731del NCBI36
NG_007406.1:g.8449_8451del , LRG_308:g.8449_8451del

Transcript Alleles

HGVS Amino-acid Change
NM_024675.4:c.152_154del MANE Select NP_078951.2:p.Thr51_Val52delinsIle
ENST00000261584.9:c.152_154del MANE Select ENSP00000261584.4:p.Thr51_Val52delinsIle
NM_024675.3:c.152_154del , LRG_308t1:c.152_154del NP_078951.2:p.Thr51_Val52delinsIle
ENST00000261584.8:c.152_154del ENSP00000261584.4:p.Thr51_Val52delinsIle
ENST00000561514.1:c.158_160del ENSP00000460666.1:p.Thr53_Val54delinsIle
ENST00000561514.2:c.-734_-732del ENSP00000460666.2:n.-734_-732del
ENST00000561514.3:c.158_160del ENSP00000460666.3:p.Thr53_Val54delinsIle
ENST00000565038.1:c.27_29del
ENST00000565038.2:c.152_154del ENSP00000459882.2:p.Thr51_Val52delinsIle
ENST00000566069.6:c.152_154del ENSP00000459237.2:p.Thr51_Val52delinsIle
ENST00000567003.1:n.430_432del
ENST00000568219.5:c.-734_-732del ENSP00000454703.2:n.-734_-732del
ENST00000697374.1:c.-734_-732del ENSP00000513284.1:n.-734_-732del
ENST00000697375.1:n.1499_1501del
ENST00000697376.1:c.-734_-732del ENSP00000513285.1:n.-734_-732del
ENST00000697377.1:c.-734_-732del ENSP00000513286.1:n.-734_-732del
ENST00000697377.2:c.158_160del ENSP00000513286.2:p.Thr53_Val54delinsIle
ENST00000697378.1:n.672_674del
ENST00000697379.1:c.-734_-732del ENSP00000513287.1:n.-734_-732del
ENST00000697379.2:c.158_160del ENSP00000513287.2:p.Thr53_Val54delinsIle
ENST00000697382.1:c.-734_-732del ENSP00000513288.1:n.-734_-732del
ENST00000697383.1:c.48+3201_48+3203del ENSP00000513289.1:n.48+3201_48+3203del
ENST00000697384.1:n.306_308del
XM_011545946.1:c.158_160del XP_011544248.1:p.Thr53_Val54delinsIle
XM_011545946.2:c.158_160del XP_011544248.1:p.Thr53_Val54delinsIle
XM_011545947.1:c.158_160del XP_011544249.1:p.Thr53_Val54delinsIle
XM_011545947.2:c.158_160del XP_011544249.1:p.Thr53_Val54delinsIle
XM_011545948.1:c.-734_-732del XP_011544250.1:n.-734_-732del
XM_011545948.2:c.-734_-732del XP_011544250.1:n.-734_-732del
XM_017023671.1:c.158_160del XP_016879160.1:p.Thr53_Val54delinsIle
XM_017023672.2:c.152_154del XP_016879161.1:p.Thr51_Val52delinsIle
XM_017023673.2:c.152_154del XP_016879162.1:p.Thr51_Val52delinsIle
XR_950851.1:n.948_950del