Canonical Allele Identifier: CA2695197531

Gene: PALB2

Linked Data

• ClinVar Variation Id: 2674162
• ClinVar RCV Id: RCV003452358

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635683_23635699del , CM000678.2:g.23635683_23635699del	GRCh38
NC_000016.9:g.23647004_23647020del , CM000678.1:g.23647004_23647020del	GRCh37
NC_000016.8:g.23554505_23554521del	NCBI36
NG_007406.1:g.10662_10678del , LRG_308:g.10662_10678del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.856_872del	ENSP00000460666.3:p.Thr286GlyfsTer13
ENST00000565038.2:c.211+2154_211+2170del	ENSP00000459882.2:n.211+2154_211+2170del
ENST00000566069.6:c.850_866del	ENSP00000459237.2:p.Thr284GlyfsTer13
ENST00000697377.2:c.856_872del	ENSP00000513286.2:p.Thr286GlyfsTer13
ENST00000697379.2:c.856_872del	ENSP00000513287.2:p.Thr286GlyfsTer13
ENST00000561514.2:c.-36_-20del	ENSP00000460666.2:n.-36_-20del
ENST00000697374.1:c.-36_-20del	ENSP00000513284.1:n.-36_-20del
ENST00000697375.1:n.2197_2213del
ENST00000697376.1:c.-36_-20del	ENSP00000513285.1:n.-36_-20del
ENST00000697377.1:c.-36_-20del	ENSP00000513286.1:n.-36_-20del
ENST00000697378.1:n.1370_1386del
ENST00000697379.1:c.-36_-20del	ENSP00000513287.1:n.-36_-20del
ENST00000697382.1:c.-36_-20del	ENSP00000513288.1:n.-36_-20del
ENST00000697383.1:c.48+5414_48+5430del	ENSP00000513289.1:n.48+5414_48+5430del
ENST00000697384.1:n.1004_1020del
ENST00000261584.9:c.850_866del MANE Select	ENSP00000261584.4:p.Thr284GlyfsTer13
ENST00000261584.8:c.850_866del	ENSP00000261584.4:p.Thr284GlyfsTer13
ENST00000565038.1:c.86+2154_86+2170del
ENST00000568219.5:c.-36_-20del	ENSP00000454703.2:n.-36_-20del
NM_024675.3:c.850_866del , LRG_308t1:c.850_866del	NP_078951.2:p.Thr284GlyfsTer13
XM_011545946.1:c.856_872del	XP_011544248.1:p.Thr286GlyfsTer13
XM_011545947.1:c.856_872del	XP_011544249.1:p.Thr286GlyfsTer13
XM_011545948.1:c.-36_-20del	XP_011544250.1:n.-36_-20del
XR_950851.1:n.1646_1662del
XM_011545946.2:c.856_872del	XP_011544248.1:p.Thr286GlyfsTer13
XM_011545947.2:c.856_872del	XP_011544249.1:p.Thr286GlyfsTer13
XM_011545948.2:c.-36_-20del	XP_011544250.1:n.-36_-20del
XM_017023671.1:c.856_872del	XP_016879160.1:p.Thr286GlyfsTer13
XM_017023672.2:c.850_866del	XP_016879161.1:p.Thr284GlyfsTer13
XM_017023673.2:c.850_866del	XP_016879162.1:p.Thr284GlyfsTer13
NM_024675.4:c.850_866del MANE Select	NP_078951.2:p.Thr284GlyfsTer13