Canonical Allele Identifier: CA16620117
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 421977
ClinVar RCV Id: RCV000480444 RCV002323836
dbSNP Id: rs1064795481
gnomAD v4: 16-23621366-TAAC-T
MyVariant Identifiers: chr16:g.23632688_23632690del (hg19) chr16:g.23621367_23621369del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23621369_23621371del , CM000678.2:g.23621369_23621371del GRCh38
NC_000016.9:g.23632690_23632692del , CM000678.1:g.23632690_23632692del GRCh37
NC_000016.8:g.23540191_23540193del NCBI36
NG_007406.1:g.24989_24991del , LRG_308:g.24989_24991del

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.3112_3114del ENSP00000460666.3:p.Val1038del
ENST00000565038.2:c.*587_*589del ENSP00000459882.2:n.*587_*589del
ENST00000566069.6:c.3106_3108del ENSP00000459237.2:p.Val1036del
ENST00000697377.2:c.2950_2952del ENSP00000513286.2:p.Val984del
ENST00000697379.2:c.3112_3114del ENSP00000513287.2:p.Val1038del
ENST00000561514.2:c.2221_2223del ENSP00000460666.2:p.Val741del
ENST00000697374.1:c.2221_2223del ENSP00000513284.1:p.Val741del
ENST00000697375.1:n.4453_4455del
ENST00000697376.1:c.2221_2223del ENSP00000513285.1:p.Val741del
ENST00000697377.1:c.2059_2061del ENSP00000513286.1:p.Val687del
ENST00000697378.1:n.3626_3628del
ENST00000697379.1:c.2221_2223del ENSP00000513287.1:p.Val741del
ENST00000697380.1:n.2398_2400del
ENST00000697381.1:n.1801_1803del
ENST00000697382.1:c.2221_2223del ENSP00000513288.1:p.Val741del
ENST00000697383.1:c.640_642del ENSP00000513289.1:p.Val214del
ENST00000261584.9:c.3106_3108del MANE Select ENSP00000261584.4:p.Val1036del
ENST00000261584.8:c.3106_3108del ENSP00000261584.4:p.Val1036del
ENST00000566069.5:c.21_23del
ENST00000568219.5:c.2221_2223del ENSP00000454703.2:p.Val741del
NM_024675.3:c.3106_3108del , LRG_308t1:c.3106_3108del NP_078951.2:p.Val1036del
XM_011545946.1:c.3112_3114del XP_011544248.1:p.Val1038del
XM_011545947.1:c.3112_3114del XP_011544249.1:p.Val1038del
XM_011545948.1:c.2221_2223del XP_011544250.1:p.Val741del
XR_950851.1:n.3902_3904del
XM_011545946.2:c.3112_3114del XP_011544248.1:p.Val1038del
XM_011545947.2:c.3112_3114del XP_011544249.1:p.Val1038del
XM_011545948.2:c.2221_2223del XP_011544250.1:p.Val741del
XM_017023671.1:c.3112_3114del XP_016879160.1:p.Val1038del
XM_017023672.2:c.3106_3108del XP_016879161.1:p.Val1036del
XM_017023673.2:c.3106_3108del XP_016879162.1:p.Val1036del
NM_024675.4:c.3106_3108del MANE Select NP_078951.2:p.Val1036del
Search 100 bp 5'
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