Canonical Allele Identifier: CA10579912
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 230664
ClinVar RCV Id: RCV000219269
dbSNP Id: rs876658695
MyVariant Identifiers: chr16:g.23614865_23614868dupCAAT (hg19) chr16:g.23614864_23614865insCAAT (hg19) chr16:g.23603544_23603547dupCAAT (hg38) chr16:g.23603543_23603544insCAAT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23603544_23603547dup , CM000678.2:g.23603544_23603547dup GRCh38
NC_000016.9:g.23614865_23614868dup , CM000678.1:g.23614865_23614868dup GRCh37
NC_000016.8:g.23522366_23522369dup NCBI36
NG_007406.1:g.42811_42814dup , LRG_308:g.42811_42814dup

Transcript Alleles

HGVS Amino-acid change
ENST00000561514.3:c.3479_3482dup ENSP00000460666.3:p.Trp1161Ter
ENST00000565038.2:c.*958_*961dup ENSP00000459882.2:n.*958_*961dup
ENST00000566069.6:c.*108_*111dup ENSP00000459237.2:n.*108_*111dup
ENST00000697377.2:c.3317_3320dup ENSP00000513286.2:p.Trp1107Ter
ENST00000697379.2:c.3479_3482dup ENSP00000513287.2:p.Trp1161Ter
ENST00000561514.2:c.2588_2591dup ENSP00000460666.2:p.Trp864Ter
ENST00000697374.1:c.2588_2591dup ENSP00000513284.1:p.Trp864Ter
ENST00000697375.1:n.4820_4823dup
ENST00000697376.1:c.*108_*111dup ENSP00000513285.1:n.*108_*111dup
ENST00000697377.1:c.2426_2429dup ENSP00000513286.1:p.Trp810Ter
ENST00000697378.1:n.3993_3996dup
ENST00000697379.1:c.2588_2591dup ENSP00000513287.1:p.Trp864Ter
ENST00000697380.1:n.2677_2680dup
ENST00000697381.1:n.2168_2171dup
ENST00000697382.1:c.*250_*253dup ENSP00000513288.1:n.*250_*253dup
ENST00000697383.1:c.1007_1010dup ENSP00000513289.1:p.Trp337Ter
ENST00000261584.9:c.3473_3476dup MANE Select ENSP00000261584.4:p.Trp1159Ter
ENST00000261584.8:c.3473_3476dup ENSP00000261584.4:p.Trp1159Ter
ENST00000566069.5:c.239_242dup
ENST00000568219.5:c.2588_2591dup ENSP00000454703.2:p.Trp864Ter
NM_024675.3:c.3473_3476dup , LRG_308t1:c.3473_3476dup NP_078951.2:p.Trp1159Ter
XM_011545946.1:c.3479_3482dup XP_011544248.1:p.Trp1161Ter
XM_011545947.1:c.*108_*111dup XP_011544249.1:n.*108_*111dup
XM_011545948.1:c.2588_2591dup XP_011544250.1:p.Trp864Ter
XR_950851.1:n.4181_4184dup
XM_011545946.2:c.3479_3482dup XP_011544248.1:p.Trp1161Ter
XM_011545947.2:c.*108_*111dup XP_011544249.1:n.*108_*111dup
XM_011545948.2:c.2588_2591dup XP_011544250.1:p.Trp864Ter
XM_017023671.1:c.3242_3245dup XP_016879160.1:p.Trp1082Ter
XM_017023672.2:c.3236_3239dup XP_016879161.1:p.Trp1080Ter
XM_017023673.2:c.*108_*111dup XP_016879162.1:n.*108_*111dup
NM_024675.4:c.3473_3476dup MANE Select NP_078951.2:p.Trp1159Ter
Search 100 bp 5'
Search 100 bp 3'