Canonical Allele Identifier: CA294559
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23624057_23624058del , CM000678.2:g.23624057_23624058del GRCh38
NC_000016.9:g.23635378_23635379del , CM000678.1:g.23635378_23635379del GRCh37
NC_000016.8:g.23542879_23542880del NCBI36
NG_007406.1:g.22302_22303del , LRG_308:g.22302_22303del

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.2793_2794del ENSP00000460666.3:p.Tyr931Ter
ENST00000565038.2:c.*268_*269del ENSP00000459882.2:n.*268_*269del
ENST00000566069.6:c.2787_2788del ENSP00000459237.2:p.Tyr929Ter
ENST00000697377.2:c.2631_2632del ENSP00000513286.2:p.Tyr877Ter
ENST00000697379.2:c.2793_2794del ENSP00000513287.2:p.Tyr931Ter
ENST00000561514.2:c.1902_1903del ENSP00000460666.2:p.Tyr634Ter
ENST00000697374.1:c.1902_1903del ENSP00000513284.1:p.Tyr634Ter
ENST00000697375.1:n.4134_4135del
ENST00000697376.1:c.1902_1903del ENSP00000513285.1:p.Tyr634Ter
ENST00000697377.1:c.1740_1741del ENSP00000513286.1:p.Tyr580Ter
ENST00000697378.1:n.3307_3308del
ENST00000697379.1:c.1902_1903del ENSP00000513287.1:p.Tyr634Ter
ENST00000697380.1:n.2079_2080del
ENST00000697381.1:n.1482_1483del
ENST00000697382.1:c.1902_1903del ENSP00000513288.1:p.Tyr634Ter
ENST00000697383.1:c.321_322del ENSP00000513289.1:p.Tyr107Ter
ENST00000261584.9:c.2787_2788del MANE Select ENSP00000261584.4:p.Tyr929Ter
ENST00000261584.8:c.2787_2788del ENSP00000261584.4:p.Tyr929Ter
ENST00000568219.5:c.1902_1903del ENSP00000454703.2:p.Tyr634Ter
NM_024675.3:c.2787_2788del , LRG_308t1:c.2787_2788del NP_078951.2:p.Tyr929Ter
XM_011545946.1:c.2793_2794del XP_011544248.1:p.Tyr931Ter
XM_011545947.1:c.2793_2794del XP_011544249.1:p.Tyr931Ter
XM_011545948.1:c.1902_1903del XP_011544250.1:p.Tyr634Ter
XR_950851.1:n.3583_3584del
XM_011545946.2:c.2793_2794del XP_011544248.1:p.Tyr931Ter
XM_011545947.2:c.2793_2794del XP_011544249.1:p.Tyr931Ter
XM_011545948.2:c.1902_1903del XP_011544250.1:p.Tyr634Ter
XM_017023671.1:c.2793_2794del XP_016879160.1:p.Tyr931Ter
XM_017023672.2:c.2787_2788del XP_016879161.1:p.Tyr929Ter
XM_017023673.2:c.2787_2788del XP_016879162.1:p.Tyr929Ter
NM_024675.4:c.2787_2788del MANE Select NP_078951.2:p.Tyr929Ter