Canonical Allele Identifier: CA16609589

Gene: PALB2

Linked Data

• ClinVar Variation Id: 402305
• ClinVar RCV Id: RCV000454143 ; RCV000635661
• dbSNP Id: rs1555459520
• MyVariant Identifiers: chr16:g.23634311_23634312dupAT (hg19) ; chr16:g.23634310_23634311insAT (hg19) ; chr16:g.23622990_23622991dupAT (hg38) ; chr16:g.23622989_23622990insAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23622990_23622991dup , CM000678.2:g.23622990_23622991dup	GRCh38
NC_000016.9:g.23634311_23634312dup , CM000678.1:g.23634311_23634312dup	GRCh37
NC_000016.8:g.23541812_23541813dup	NCBI36
NG_007406.1:g.23367_23368dup , LRG_308:g.23367_23368dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.2980_2981dup	ENSP00000460666.3:p.Met994IlefsTer2
ENST00000565038.2:c.*455_*456dup	ENSP00000459882.2:n.*455_*456dup
ENST00000566069.6:c.2974_2975dup	ENSP00000459237.2:p.Met992IlefsTer2
ENST00000697377.2:c.2818_2819dup	ENSP00000513286.2:p.Met940IlefsTer2
ENST00000697379.2:c.2980_2981dup	ENSP00000513287.2:p.Met994IlefsTer2
ENST00000561514.2:c.2089_2090dup	ENSP00000460666.2:p.Met697IlefsTer2
ENST00000697374.1:c.2089_2090dup	ENSP00000513284.1:p.Met697IlefsTer2
ENST00000697375.1:n.4321_4322dup
ENST00000697376.1:c.2089_2090dup	ENSP00000513285.1:p.Met697IlefsTer2
ENST00000697377.1:c.1927_1928dup	ENSP00000513286.1:p.Met643IlefsTer2
ENST00000697378.1:n.3494_3495dup
ENST00000697379.1:c.2089_2090dup	ENSP00000513287.1:p.Met697IlefsTer2
ENST00000697380.1:n.2266_2267dup
ENST00000697381.1:n.1669_1670dup
ENST00000697382.1:c.2089_2090dup	ENSP00000513288.1:p.Met697IlefsTer2
ENST00000697383.1:c.508_509dup	ENSP00000513289.1:p.Met170IlefsTer2
ENST00000261584.9:c.2974_2975dup MANE Select	ENSP00000261584.4:p.Met992IlefsTer2
ENST00000261584.8:c.2974_2975dup	ENSP00000261584.4:p.Met992IlefsTer2
ENST00000568219.5:c.2089_2090dup	ENSP00000454703.2:p.Met697IlefsTer2
NM_024675.3:c.2974_2975dup , LRG_308t1:c.2974_2975dup	NP_078951.2:p.Met992IlefsTer2
XM_011545946.1:c.2980_2981dup	XP_011544248.1:p.Met994IlefsTer2
XM_011545947.1:c.2980_2981dup	XP_011544249.1:p.Met994IlefsTer2
XM_011545948.1:c.2089_2090dup	XP_011544250.1:p.Met697IlefsTer2
XR_950851.1:n.3770_3771dup
XM_011545946.2:c.2980_2981dup	XP_011544248.1:p.Met994IlefsTer2
XM_011545947.2:c.2980_2981dup	XP_011544249.1:p.Met994IlefsTer2
XM_011545948.2:c.2089_2090dup	XP_011544250.1:p.Met697IlefsTer2
XM_017023671.1:c.2980_2981dup	XP_016879160.1:p.Met994IlefsTer2
XM_017023672.2:c.2974_2975dup	XP_016879161.1:p.Met992IlefsTer2
XM_017023673.2:c.2974_2975dup	XP_016879162.1:p.Met992IlefsTer2
NM_024675.4:c.2974_2975dup MANE Select	NP_078951.2:p.Met992IlefsTer2