Canonical Allele Identifier: CA2573152319

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1691953
• ClinVar RCV Id: RCV002256995
• dbSNP Id: rs2142444537

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23636155_23636156insA , CM000678.2:g.23636155_23636156insA	GRCh38
NC_000016.9:g.23647476_23647477insA , CM000678.1:g.23647476_23647477insA	GRCh37
NC_000016.8:g.23554977_23554978insA	NCBI36
NG_007406.1:g.10202_10203insT , LRG_308:g.10202_10203insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.396_397insT	ENSP00000460666.3:p.Arg133Ter
ENST00000565038.2:c.211+1694_211+1695insT	ENSP00000459882.2:n.211+1694_211+1695insT...
ENST00000566069.6:c.390_391insT	ENSP00000459237.2:p.Arg131Ter
ENST00000697377.2:c.396_397insT	ENSP00000513286.2:p.Arg133Ter
ENST00000697379.2:c.396_397insT	ENSP00000513287.2:p.Arg133Ter
ENST00000561514.2:c.-496_-495insT	ENSP00000460666.2:n.-496_-495insT
ENST00000697374.1:c.-496_-495insT	ENSP00000513284.1:n.-496_-495insT
ENST00000697375.1:n.1737_1738insT
ENST00000697376.1:c.-496_-495insT	ENSP00000513285.1:n.-496_-495insT
ENST00000697377.1:c.-496_-495insT	ENSP00000513286.1:n.-496_-495insT
ENST00000697378.1:n.910_911insT
ENST00000697379.1:c.-496_-495insT	ENSP00000513287.1:n.-496_-495insT
ENST00000697382.1:c.-496_-495insT	ENSP00000513288.1:n.-496_-495insT
ENST00000697383.1:c.48+4954_48+4955insT	ENSP00000513289.1:n.48+4954_48+4955insT
ENST00000697384.1:n.544_545insT
ENST00000261584.9:c.390_391insT MANE Select	ENSP00000261584.4:p.Arg131Ter
ENST00000261584.8:c.390_391insT	ENSP00000261584.4:p.Arg131Ter
ENST00000565038.1:c.86+1694_86+1695insT
ENST00000567003.1:n.668_669insT
ENST00000568219.5:c.-496_-495insT	ENSP00000454703.2:n.-496_-495insT
NM_024675.3:c.390_391insT , LRG_308t1:c.390_391insT	NP_078951.2:p.Arg131Ter
XM_011545946.1:c.396_397insT	XP_011544248.1:p.Arg133Ter
XM_011545947.1:c.396_397insT	XP_011544249.1:p.Arg133Ter
XM_011545948.1:c.-496_-495insT	XP_011544250.1:n.-496_-495insT
XR_950851.1:n.1186_1187insT
XM_011545946.2:c.396_397insT	XP_011544248.1:p.Arg133Ter
XM_011545947.2:c.396_397insT	XP_011544249.1:p.Arg133Ter
XM_011545948.2:c.-496_-495insT	XP_011544250.1:n.-496_-495insT
XM_017023671.1:c.396_397insT	XP_016879160.1:p.Arg133Ter
XM_017023672.2:c.390_391insT	XP_016879161.1:p.Arg131Ter
XM_017023673.2:c.390_391insT	XP_016879162.1:p.Arg131Ter
NM_024675.4:c.390_391insT MANE Select	NP_078951.2:p.Arg131Ter