Canonical Allele Identifier: CA916084363

Gene: PALB2

Linked Data

• ClinVar Variation Id: 950529
• ClinVar RCV Id: RCV001222257
• dbSNP Id: rs1966508003

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23607918del , CM000678.2:g.23607918del	GRCh38
NC_000016.9:g.23619239del , CM000678.1:g.23619239del	GRCh37
NC_000016.8:g.23526740del	NCBI36
NG_007406.1:g.38440del , LRG_308:g.38440del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3302del	ENSP00000460666.3:p.Thr1101ArgfsTer7
ENST00000565038.2:c.*777del	ENSP00000459882.2:n.*777del
ENST00000566069.6:c.3202-4249del	ENSP00000459237.2:n.3202-4249del
ENST00000697377.2:c.3140del	ENSP00000513286.2:p.Thr1047ArgfsTer7
ENST00000697379.2:c.3302del	ENSP00000513287.2:p.Thr1101ArgfsTer7
ENST00000561514.2:c.2411del	ENSP00000460666.2:p.Thr804ArgfsTer7
ENST00000697374.1:c.2411del	ENSP00000513284.1:p.Thr804ArgfsTer7
ENST00000697375.1:n.4643del
ENST00000697376.1:c.2317-4249del	ENSP00000513285.1:n.2317-4249del
ENST00000697377.1:c.2249del	ENSP00000513286.1:p.Thr750ArgfsTer7
ENST00000697378.1:n.3816del
ENST00000697379.1:c.2411del	ENSP00000513287.1:p.Thr804ArgfsTer7
ENST00000697380.1:n.2500del
ENST00000697381.1:n.1991del
ENST00000697382.1:c.*73del	ENSP00000513288.1:n.*73del
ENST00000697383.1:c.830del	ENSP00000513289.1:p.Thr277ArgfsTer7
ENST00000261584.9:c.3296del MANE Select	ENSP00000261584.4:p.Thr1099ArgfsTer7
ENST00000261584.8:c.3296del	ENSP00000261584.4:p.Thr1099ArgfsTer7
ENST00000566069.5:c.117-4249del
ENST00000568219.5:c.2411del	ENSP00000454703.2:p.Thr804ArgfsTer7
NM_024675.3:c.3296del , LRG_308t1:c.3296del	NP_078951.2:p.Thr1099ArgfsTer7
XM_011545946.1:c.3302del	XP_011544248.1:p.Thr1101ArgfsTer7
XM_011545947.1:c.3208-4249del	XP_011544249.1:n.3208-4249del
XM_011545948.1:c.2411del	XP_011544250.1:p.Thr804ArgfsTer7
XR_950851.1:n.4004del
XM_011545946.2:c.3302del	XP_011544248.1:p.Thr1101ArgfsTer7
XM_011545947.2:c.3208-4249del	XP_011544249.1:n.3208-4249del
XM_011545948.2:c.2411del	XP_011544250.1:p.Thr804ArgfsTer7
XM_017023671.1:c.3120-4249del	XP_016879160.1:n.3120-4249del
XM_017023672.2:c.3114-4249del	XP_016879161.1:n.3114-4249del
XM_017023673.2:c.3202-4249del	XP_016879162.1:n.3202-4249del
NM_024675.4:c.3296del MANE Select	NP_078951.2:p.Thr1099ArgfsTer7