Canonical Allele Identifier: CA2213427937
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23634910_23634911delinsCT , CM000678.2:g.23634910_23634911delinsCT GRCh38
NC_000016.9:g.23646231_23646232delinsCT , CM000678.1:g.23646231_23646232delinsCT GRCh37
NC_000016.8:g.23553732_23553733delinsCT NCBI36
NG_007406.1:g.11447_11448delinsAG , LRG_308:g.11447_11448delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.1641_1642delinsAG ENSP00000460666.3:p.Glu547=
ENST00000565038.2:c.211+2939_211+2940delinsAG ENSP00000459882.2:n.211+2939_211+2940delinsAG
ENST00000566069.6:c.1635_1636delinsAG ENSP00000459237.2:p.Glu545=
ENST00000697377.2:c.1641_1642delinsAG ENSP00000513286.2:p.Glu547=
ENST00000697379.2:c.1641_1642delinsAG ENSP00000513287.2:p.Glu547=
ENST00000561514.2:c.750_751delinsAG ENSP00000460666.2:p.Glu250=
ENST00000697374.1:c.750_751delinsAG ENSP00000513284.1:p.Glu250=
ENST00000697375.1:n.2982_2983delinsAG
ENST00000697376.1:c.750_751delinsAG ENSP00000513285.1:p.Glu250=
ENST00000697377.1:c.750_751delinsAG ENSP00000513286.1:p.Glu250=
ENST00000697378.1:n.2155_2156delinsAG
ENST00000697379.1:c.750_751delinsAG ENSP00000513287.1:p.Glu250=
ENST00000697382.1:c.750_751delinsAG ENSP00000513288.1:p.Glu250=
ENST00000697383.1:c.49-5636_49-5635delinsAG ENSP00000513289.1:n.49-5636_49-5635delinsAG
ENST00000697384.1:n.1789_1790delinsAG
ENST00000261584.9:c.1635_1636delinsAG MANE Select ENSP00000261584.4:p.Glu545=
ENST00000261584.8:c.1635_1636delinsAG ENSP00000261584.4:p.Glu545=
ENST00000565038.1:c.86+2939_86+2940delinsAG
ENST00000568219.5:c.750_751delinsAG ENSP00000454703.2:p.Glu250=
NM_024675.3:c.1635_1636delinsAG , LRG_308t1:c.1635_1636delinsAG NP_078951.2:p.Glu545=
XM_011545946.1:c.1641_1642delinsAG XP_011544248.1:p.Glu547=
XM_011545947.1:c.1641_1642delinsAG XP_011544249.1:p.Glu547=
XM_011545948.1:c.750_751delinsAG XP_011544250.1:p.Glu250=
XR_950851.1:n.2431_2432delinsAG
XM_011545946.2:c.1641_1642delinsAG XP_011544248.1:p.Glu547=
XM_011545947.2:c.1641_1642delinsAG XP_011544249.1:p.Glu547=
XM_011545948.2:c.750_751delinsAG XP_011544250.1:p.Glu250=
XM_017023671.1:c.1641_1642delinsAG XP_016879160.1:p.Glu547=
XM_017023672.2:c.1635_1636delinsAG XP_016879161.1:p.Glu545=
XM_017023673.2:c.1635_1636delinsAG XP_016879162.1:p.Glu545=
NM_024675.4:c.1635_1636delinsAG MANE Select NP_078951.2:p.Glu545=