Canonical Allele Identifier: CA2695197616

Gene: PALB2

Linked Data

• ClinVar Variation Id: 2674133
• ClinVar RCV Id: RCV003452329

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23626338_23626351del , CM000678.2:g.23626338_23626351del	GRCh38
NC_000016.9:g.23637659_23637672del , CM000678.1:g.23637659_23637672del	GRCh37
NC_000016.8:g.23545160_23545173del	NCBI36
NG_007406.1:g.20015_20028del , LRG_308:g.20015_20028del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.2647_2660del	ENSP00000460666.3:p.Gly883MetfsTer?
ENST00000565038.2:c.*122_*135del	ENSP00000459882.2:n.*122_*135del
ENST00000566069.6:c.2641_2654del	ENSP00000459237.2:p.Gly881MetfsTer?
ENST00000697377.2:c.2593-2249_2593-2236del	ENSP00000513286.2:n.2593-2249_2593-2236del
ENST00000697379.2:c.2647_2660del	ENSP00000513287.2:p.Gly883MetfsTer?
ENST00000561514.2:c.1756_1769del	ENSP00000460666.2:p.Gly586MetfsTer?
ENST00000697374.1:c.1756_1769del	ENSP00000513284.1:p.Gly586MetfsTer?
ENST00000697375.1:n.3988_4001del
ENST00000697376.1:c.1756_1769del	ENSP00000513285.1:p.Gly586MetfsTer?
ENST00000697377.1:c.1702-2249_1702-2236del	ENSP00000513286.1:n.1702-2249_1702-2236del
ENST00000697378.1:n.3161_3174del
ENST00000697379.1:c.1756_1769del	ENSP00000513287.1:p.Gly586MetfsTer?
ENST00000697380.1:n.1933_1946del
ENST00000697381.1:n.1336_1349del
ENST00000697382.1:c.1756_1769del	ENSP00000513288.1:p.Gly586MetfsTer?
ENST00000697383.1:c.175_188del	ENSP00000513289.1:p.Gly59MetfsTer?
ENST00000261584.9:c.2641_2654del MANE Select	ENSP00000261584.4:p.Gly881MetfsTer?
ENST00000261584.8:c.2641_2654del	ENSP00000261584.4:p.Gly881MetfsTer?
ENST00000565038.1:c.213_226del
ENST00000568219.5:c.1756_1769del	ENSP00000454703.2:p.Gly586MetfsTer?
NM_024675.3:c.2641_2654del , LRG_308t1:c.2641_2654del	NP_078951.2:p.Gly881MetfsTer?
XM_011545946.1:c.2647_2660del	XP_011544248.1:p.Gly883MetfsTer?
XM_011545947.1:c.2647_2660del	XP_011544249.1:p.Gly883MetfsTer?
XM_011545948.1:c.1756_1769del	XP_011544250.1:p.Gly586MetfsTer?
XR_950851.1:n.3437_3450del
XM_011545946.2:c.2647_2660del	XP_011544248.1:p.Gly883MetfsTer?
XM_011545947.2:c.2647_2660del	XP_011544249.1:p.Gly883MetfsTer?
XM_011545948.2:c.1756_1769del	XP_011544250.1:p.Gly586MetfsTer?
XM_017023671.1:c.2647_2660del	XP_016879160.1:p.Gly883MetfsTer?
XM_017023672.2:c.2641_2654del	XP_016879161.1:p.Gly881MetfsTer?
XM_017023673.2:c.2641_2654del	XP_016879162.1:p.Gly881MetfsTer?
NM_024675.4:c.2641_2654del MANE Select	NP_078951.2:p.Gly881MetfsTer?