Canonical Allele Identifier: CA294555
Gene: PALB2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23634950_23634959del , CM000678.2:g.23634950_23634959del GRCh38
NC_000016.9:g.23646271_23646280del , CM000678.1:g.23646271_23646280del GRCh37
NC_000016.8:g.23553772_23553781del NCBI36
NG_007406.1:g.11403_11412del , LRG_308:g.11403_11412del

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.1597_1606del ENSP00000460666.3:p.Pro534AlafsTer26
ENST00000565038.2:c.211+2895_211+2904del ENSP00000459882.2:n.211+2895_211+2904del
ENST00000566069.6:c.1591_1600del ENSP00000459237.2:p.Pro532AlafsTer26
ENST00000697377.2:c.1597_1606del ENSP00000513286.2:p.Pro534AlafsTer26
ENST00000697379.2:c.1597_1606del ENSP00000513287.2:p.Pro534AlafsTer26
ENST00000561514.2:c.706_715del ENSP00000460666.2:p.Pro237AlafsTer26
ENST00000697374.1:c.706_715del ENSP00000513284.1:p.Pro237AlafsTer26
ENST00000697375.1:n.2938_2947del
ENST00000697376.1:c.706_715del ENSP00000513285.1:p.Pro237AlafsTer26
ENST00000697377.1:c.706_715del ENSP00000513286.1:p.Pro237AlafsTer26
ENST00000697378.1:n.2111_2120del
ENST00000697379.1:c.706_715del ENSP00000513287.1:p.Pro237AlafsTer26
ENST00000697382.1:c.706_715del ENSP00000513288.1:p.Pro237AlafsTer26
ENST00000697383.1:c.49-5680_49-5671del ENSP00000513289.1:n.49-5680_49-5671del
ENST00000697384.1:n.1745_1754del
ENST00000261584.9:c.1591_1600del MANE Select ENSP00000261584.4:p.Pro532AlafsTer26
ENST00000261584.8:c.1591_1600del ENSP00000261584.4:p.Pro532AlafsTer26
ENST00000565038.1:c.86+2895_86+2904del
ENST00000568219.5:c.706_715del ENSP00000454703.2:p.Pro237AlafsTer26
NM_024675.3:c.1591_1600del , LRG_308t1:c.1591_1600del NP_078951.2:p.Pro532AlafsTer26
XM_011545946.1:c.1597_1606del XP_011544248.1:p.Pro534AlafsTer26
XM_011545947.1:c.1597_1606del XP_011544249.1:p.Pro534AlafsTer26
XM_011545948.1:c.706_715del XP_011544250.1:p.Pro237AlafsTer26
XR_950851.1:n.2387_2396del
XM_011545946.2:c.1597_1606del XP_011544248.1:p.Pro534AlafsTer26
XM_011545947.2:c.1597_1606del XP_011544249.1:p.Pro534AlafsTer26
XM_011545948.2:c.706_715del XP_011544250.1:p.Pro237AlafsTer26
XM_017023671.1:c.1597_1606del XP_016879160.1:p.Pro534AlafsTer26
XM_017023672.2:c.1591_1600del XP_016879161.1:p.Pro532AlafsTer26
XM_017023673.2:c.1591_1600del XP_016879162.1:p.Pro532AlafsTer26
NM_024675.4:c.1591_1600del MANE Select NP_078951.2:p.Pro532AlafsTer26
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