Canonical Allele Identifier: CA2213433884
Community Standard Title: NM_024675.4(PALB2):c.156_157delinsAG (p.Val52=)
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23637904_23637905delinsCT , CM000678.2:g.23637904_23637905delinsCT GRCh38
NC_000016.9:g.23649225_23649226delinsCT , CM000678.1:g.23649225_23649226delinsCT GRCh37
NC_000016.8:g.23556726_23556727delinsCT NCBI36
NG_007406.1:g.8453_8454delinsAG , LRG_308:g.8453_8454delinsAG

Transcript Alleles

HGVS Amino-acid Change
NM_024675.4:c.156_157delinsAG MANE Select NP_078951.2:p.Val52=
ENST00000261584.9:c.156_157delinsAG MANE Select ENSP00000261584.4:p.Val52=
NM_024675.3:c.156_157delinsAG , LRG_308t1:c.156_157delinsAG NP_078951.2:p.Val52=
ENST00000261584.8:c.156_157delinsAG ENSP00000261584.4:p.Val52=
ENST00000561514.1:c.162_163delinsAG ENSP00000460666.1:p.Val54=
ENST00000561514.2:c.-730_-729delinsAG ENSP00000460666.2:n.-730_-729delinsAG
ENST00000561514.3:c.162_163delinsAG ENSP00000460666.3:p.Val54=
ENST00000565038.1:c.31_32delinsAG
ENST00000565038.2:c.156_157delinsAG ENSP00000459882.2:p.Val52=
ENST00000566069.6:c.156_157delinsAG ENSP00000459237.2:p.Val52=
ENST00000567003.1:n.434_435delinsAG
ENST00000568219.5:c.-730_-729delinsAG ENSP00000454703.2:n.-730_-729delinsAG
ENST00000697374.1:c.-730_-729delinsAG ENSP00000513284.1:n.-730_-729delinsAG
ENST00000697375.1:n.1503_1504delinsAG
ENST00000697376.1:c.-730_-729delinsAG ENSP00000513285.1:n.-730_-729delinsAG
ENST00000697377.1:c.-730_-729delinsAG ENSP00000513286.1:n.-730_-729delinsAG
ENST00000697377.2:c.162_163delinsAG ENSP00000513286.2:p.Val54=
ENST00000697378.1:n.676_677delinsAG
ENST00000697379.1:c.-730_-729delinsAG ENSP00000513287.1:n.-730_-729delinsAG
ENST00000697379.2:c.162_163delinsAG ENSP00000513287.2:p.Val54=
ENST00000697382.1:c.-730_-729delinsAG ENSP00000513288.1:n.-730_-729delinsAG
ENST00000697383.1:c.48+3205_48+3206delinsAG ENSP00000513289.1:n.48+3205_48+3206delinsAG
ENST00000697384.1:n.310_311delinsAG
XM_011545946.1:c.162_163delinsAG XP_011544248.1:p.Val54=
XM_011545946.2:c.162_163delinsAG XP_011544248.1:p.Val54=
XM_011545947.1:c.162_163delinsAG XP_011544249.1:p.Val54=
XM_011545947.2:c.162_163delinsAG XP_011544249.1:p.Val54=
XM_011545948.1:c.-730_-729delinsAG XP_011544250.1:n.-730_-729delinsAG
XM_011545948.2:c.-730_-729delinsAG XP_011544250.1:n.-730_-729delinsAG
XM_017023671.1:c.162_163delinsAG XP_016879160.1:p.Val54=
XM_017023672.2:c.156_157delinsAG XP_016879161.1:p.Val52=
XM_017023673.2:c.156_157delinsAG XP_016879162.1:p.Val52=
XR_950851.1:n.952_953delinsAG