Canonical Allele Identifier: CA913188735

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1007493
• ClinVar RCV Id: RCV001304682 ; RCV003584885
• dbSNP Id: rs1967053362

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23636204_23636205delinsAT , CM000678.2:g.23636204_23636205delinsAT	GRCh38
NC_000016.9:g.23647525_23647526delinsAT , CM000678.1:g.23647525_23647526delinsAT	GRCh37
NC_000016.8:g.23555026_23555027delinsAT	NCBI36
NG_007406.1:g.10153_10154delinsAT , LRG_308:g.10153_10154delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.347_348delinsAT	ENSP00000460666.3:p.Gly116Asp
ENST00000565038.2:c.211+1645_211+1646delinsAT	ENSP00000459882.2:n.211+1645_211+1646delinsAT
ENST00000566069.6:c.341_342delinsAT	ENSP00000459237.2:p.Gly114Asp
ENST00000697377.2:c.347_348delinsAT	ENSP00000513286.2:p.Gly116Asp
ENST00000697379.2:c.347_348delinsAT	ENSP00000513287.2:p.Gly116Asp
ENST00000561514.2:c.-545_-544delinsAT	ENSP00000460666.2:n.-545_-544delinsAT
ENST00000697374.1:c.-545_-544delinsAT	ENSP00000513284.1:n.-545_-544delinsAT
ENST00000697375.1:n.1688_1689delinsAT
ENST00000697376.1:c.-545_-544delinsAT	ENSP00000513285.1:n.-545_-544delinsAT
ENST00000697377.1:c.-545_-544delinsAT	ENSP00000513286.1:n.-545_-544delinsAT
ENST00000697378.1:n.861_862delinsAT
ENST00000697379.1:c.-545_-544delinsAT	ENSP00000513287.1:n.-545_-544delinsAT
ENST00000697382.1:c.-545_-544delinsAT	ENSP00000513288.1:n.-545_-544delinsAT
ENST00000697383.1:c.48+4905_48+4906delinsAT	ENSP00000513289.1:n.48+4905_48+4906delinsAT
ENST00000697384.1:n.495_496delinsAT
ENST00000261584.9:c.341_342delinsAT MANE Select	ENSP00000261584.4:p.Gly114Asp
ENST00000261584.8:c.341_342delinsAT	ENSP00000261584.4:p.Gly114Asp
ENST00000565038.1:c.86+1645_86+1646delinsAT
ENST00000567003.1:n.619_620delinsAT
ENST00000568219.5:c.-545_-544delinsAT	ENSP00000454703.2:n.-545_-544delinsAT
NM_024675.3:c.341_342delinsAT , LRG_308t1:c.341_342delinsAT	NP_078951.2:p.Gly114Asp
XM_011545946.1:c.347_348delinsAT	XP_011544248.1:p.Gly116Asp
XM_011545947.1:c.347_348delinsAT	XP_011544249.1:p.Gly116Asp
XM_011545948.1:c.-545_-544delinsAT	XP_011544250.1:n.-545_-544delinsAT
XR_950851.1:n.1137_1138delinsAT
XM_011545946.2:c.347_348delinsAT	XP_011544248.1:p.Gly116Asp
XM_011545947.2:c.347_348delinsAT	XP_011544249.1:p.Gly116Asp
XM_011545948.2:c.-545_-544delinsAT	XP_011544250.1:n.-545_-544delinsAT
XM_017023671.1:c.347_348delinsAT	XP_016879160.1:p.Gly116Asp
XM_017023672.2:c.341_342delinsAT	XP_016879161.1:p.Gly114Asp
XM_017023673.2:c.341_342delinsAT	XP_016879162.1:p.Gly114Asp
NM_024675.4:c.341_342delinsAT MANE Select	NP_078951.2:p.Gly114Asp