Canonical Allele Identifier: CA16614844
Gene: PALB2 HGNC NCBI

Linked Data

dbSNP Id: rs1060502734
gnomAD v2: 16-23646192-GAATA-G
gnomAD v4: 16-23634871-GAATA-G
MyVariant Identifiers: chr16:g.23646193_23646196del (hg19) chr16:g.23634872_23634875del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23634877_23634880del , CM000678.2:g.23634877_23634880del GRCh38
NC_000016.9:g.23646198_23646201del , CM000678.1:g.23646198_23646201del GRCh37
NC_000016.8:g.23553699_23553702del NCBI36
NG_007406.1:g.11483_11486del , LRG_308:g.11483_11486del

Transcript Alleles

HGVS Amino-acid change
ENST00000561514.3:c.1677_1680del ENSP00000460666.3:p.Ile560LysfsTer2
ENST00000565038.2:c.211+2975_211+2978del ENSP00000459882.2:n.211+2975_211+2978del
ENST00000566069.6:c.1671_1674del ENSP00000459237.2:p.Ile558LysfsTer2
ENST00000697377.2:c.1677_1680del ENSP00000513286.2:p.Ile560LysfsTer2
ENST00000697379.2:c.1677_1680del ENSP00000513287.2:p.Ile560LysfsTer2
ENST00000561514.2:c.786_789del ENSP00000460666.2:p.Ile263LysfsTer2
ENST00000697374.1:c.786_789del ENSP00000513284.1:p.Ile263LysfsTer2
ENST00000697375.1:n.3018_3021del
ENST00000697376.1:c.786_789del ENSP00000513285.1:p.Ile263LysfsTer2
ENST00000697377.1:c.786_789del ENSP00000513286.1:p.Ile263LysfsTer2
ENST00000697378.1:n.2191_2194del
ENST00000697379.1:c.786_789del ENSP00000513287.1:p.Ile263LysfsTer2
ENST00000697382.1:c.786_789del ENSP00000513288.1:p.Ile263LysfsTer2
ENST00000697383.1:c.49-5600_49-5597del ENSP00000513289.1:n.49-5600_49-5597del
ENST00000697384.1:n.1825_1828del
ENST00000261584.9:c.1671_1674del MANE Select ENSP00000261584.4:p.Ile558LysfsTer2
ENST00000261584.8:c.1671_1674del ENSP00000261584.4:p.Ile558LysfsTer2
ENST00000565038.1:c.86+2975_86+2978del
ENST00000568219.5:c.786_789del ENSP00000454703.2:p.Ile263LysfsTer2
NM_024675.3:c.1671_1674del , LRG_308t1:c.1671_1674del NP_078951.2:p.Ile558LysfsTer2
XM_011545946.1:c.1677_1680del XP_011544248.1:p.Ile560LysfsTer2
XM_011545947.1:c.1677_1680del XP_011544249.1:p.Ile560LysfsTer2
XM_011545948.1:c.786_789del XP_011544250.1:p.Ile263LysfsTer2
XR_950851.1:n.2467_2470del
XM_011545946.2:c.1677_1680del XP_011544248.1:p.Ile560LysfsTer2
XM_011545947.2:c.1677_1680del XP_011544249.1:p.Ile560LysfsTer2
XM_011545948.2:c.786_789del XP_011544250.1:p.Ile263LysfsTer2
XM_017023671.1:c.1677_1680del XP_016879160.1:p.Ile560LysfsTer2
XM_017023672.2:c.1671_1674del XP_016879161.1:p.Ile558LysfsTer2
XM_017023673.2:c.1671_1674del XP_016879162.1:p.Ile558LysfsTer2
NM_024675.4:c.1671_1674del MANE Select NP_078951.2:p.Ile558LysfsTer2
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