Canonical Allele Identifier: CA2632324008

Gene: PALB2

Linked Data

• gnomAD v4: 16-23603460-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603461dup , CM000678.2:g.23603461dup	GRCh38
NC_000016.9:g.23614782dup , CM000678.1:g.23614782dup	GRCh37
NC_000016.8:g.23522283dup	NCBI36
NG_007406.1:g.42897dup , LRG_308:g.42897dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3565dup	ENSP00000460666.3:p.Ter1189LeuextTer3
ENST00000565038.2:c.*1044dup	ENSP00000459882.2:n.*1044dup
ENST00000566069.6:c.*194dup	ENSP00000459237.2:n.*194dup
ENST00000697377.2:c.3403dup	ENSP00000513286.2:p.Ter1135LeuextTer3
ENST00000697379.2:c.3565dup	ENSP00000513287.2:p.Ter1189LeuextTer3
ENST00000561514.2:c.2674dup	ENSP00000460666.2:p.Ter892LeuextTer3
ENST00000697374.1:c.2674dup	ENSP00000513284.1:p.Ter892LeuextTer3
ENST00000697375.1:n.4906dup
ENST00000697376.1:c.*194dup	ENSP00000513285.1:n.*194dup
ENST00000697377.1:c.2512dup	ENSP00000513286.1:p.Ter838LeuextTer3
ENST00000697378.1:n.4079dup
ENST00000697379.1:c.2674dup	ENSP00000513287.1:p.Ter892LeuextTer3
ENST00000697380.1:n.2763dup
ENST00000697381.1:n.2254dup
ENST00000697382.1:c.*336dup	ENSP00000513288.1:n.*336dup
ENST00000697383.1:c.1093dup	ENSP00000513289.1:p.Ter365LeuextTer3
ENST00000261584.9:c.3559dup MANE Select	ENSP00000261584.4:p.Ter1187LeuextTer3
ENST00000261584.8:c.3559dup	ENSP00000261584.4:p.Ter1187LeuextTer3
ENST00000566069.5:c.325dup
ENST00000568219.5:c.2674dup	ENSP00000454703.2:p.Ter892LeuextTer3
NM_024675.3:c.3559dup , LRG_308t1:c.3559dup	NP_078951.2:p.Ter1187LeuextTer3
XM_011545946.1:c.3565dup	XP_011544248.1:p.Ter1189LeuextTer3
XM_011545947.1:c.*194dup	XP_011544249.1:n.*194dup
XM_011545948.1:c.2674dup	XP_011544250.1:p.Ter892LeuextTer3
XR_950851.1:n.4267dup
XM_011545946.2:c.3565dup	XP_011544248.1:p.Ter1189LeuextTer3
XM_011545947.2:c.*194dup	XP_011544249.1:n.*194dup
XM_011545948.2:c.2674dup	XP_011544250.1:p.Ter892LeuextTer3
XM_017023671.1:c.3328dup	XP_016879160.1:p.Ter1110LeuextTer3
XM_017023672.2:c.3322dup	XP_016879161.1:p.Ter1108LeuextTer3
XM_017023673.2:c.*194dup	XP_016879162.1:n.*194dup
NM_024675.4:c.3559dup MANE Select	NP_078951.2:p.Ter1187LeuextTer3