Canonical Allele Identifier: CA913188698

Gene: PALB2

Linked Data

• ClinVar Variation Id: 628797
• ClinVar RCV Id: RCV000773460
• dbSNP Id: rs1567212825

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23621384_23621391del , CM000678.2:g.23621384_23621391del	GRCh38
NC_000016.9:g.23632705_23632712del , CM000678.1:g.23632705_23632712del	GRCh37
NC_000016.8:g.23540206_23540213del	NCBI36
NG_007406.1:g.24968_24975del , LRG_308:g.24968_24975del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3091_3098del	ENSP00000460666.3:p.Thr1031TyrfsTer21
ENST00000565038.2:c.*566_*573del	ENSP00000459882.2:n.*566_*573del
ENST00000566069.6:c.3085_3092del	ENSP00000459237.2:p.Thr1029TyrfsTer21
ENST00000697377.2:c.2929_2936del	ENSP00000513286.2:p.Thr977TyrfsTer21
ENST00000697379.2:c.3091_3098del	ENSP00000513287.2:p.Thr1031TyrfsTer21
ENST00000561514.2:c.2200_2207del	ENSP00000460666.2:p.Thr734TyrfsTer21
ENST00000697374.1:c.2200_2207del	ENSP00000513284.1:p.Thr734TyrfsTer21
ENST00000697375.1:n.4432_4439del
ENST00000697376.1:c.2200_2207del	ENSP00000513285.1:p.Thr734TyrfsTer21
ENST00000697377.1:c.2038_2045del	ENSP00000513286.1:p.Thr680TyrfsTer21
ENST00000697378.1:n.3605_3612del
ENST00000697379.1:c.2200_2207del	ENSP00000513287.1:p.Thr734TyrfsTer21
ENST00000697380.1:n.2377_2384del
ENST00000697381.1:n.1780_1787del
ENST00000697382.1:c.2200_2207del	ENSP00000513288.1:p.Thr734TyrfsTer?
ENST00000697383.1:c.619_626del	ENSP00000513289.1:p.Thr207TyrfsTer21
ENST00000261584.9:c.3085_3092del MANE Select	ENSP00000261584.4:p.Thr1029TyrfsTer21
ENST00000261584.8:c.3085_3092del	ENSP00000261584.4:p.Thr1029TyrfsTer21
ENST00000568219.5:c.2200_2207del	ENSP00000454703.2:p.Thr734TyrfsTer21
NM_024675.3:c.3085_3092del , LRG_308t1:c.3085_3092del	NP_078951.2:p.Thr1029TyrfsTer21
XM_011545946.1:c.3091_3098del	XP_011544248.1:p.Thr1031TyrfsTer21
XM_011545947.1:c.3091_3098del	XP_011544249.1:p.Thr1031TyrfsTer21
XM_011545948.1:c.2200_2207del	XP_011544250.1:p.Thr734TyrfsTer21
XR_950851.1:n.3881_3888del
XM_011545946.2:c.3091_3098del	XP_011544248.1:p.Thr1031TyrfsTer21
XM_011545947.2:c.3091_3098del	XP_011544249.1:p.Thr1031TyrfsTer21
XM_011545948.2:c.2200_2207del	XP_011544250.1:p.Thr734TyrfsTer21
XM_017023671.1:c.3091_3098del	XP_016879160.1:p.Thr1031TyrfsTer12
XM_017023672.2:c.3085_3092del	XP_016879161.1:p.Thr1029TyrfsTer12
XM_017023673.2:c.3085_3092del	XP_016879162.1:p.Thr1029TyrfsTer21
NM_024675.4:c.3085_3092del MANE Select	NP_078951.2:p.Thr1029TyrfsTer21