Canonical Allele Identifier: CA2695197490

Gene: PALB2

Linked Data

• ClinVar Variation Id: 2674058
• ClinVar RCV Id: RCV003452254

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23629970_23629995dup , CM000678.2:g.23629970_23629995dup	GRCh38
NC_000016.9:g.23641291_23641316dup , CM000678.1:g.23641291_23641316dup	GRCh37
NC_000016.8:g.23548792_23548817dup	NCBI36
NG_007406.1:g.16365_16390dup , LRG_308:g.16365_16390dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.2167_2192dup	ENSP00000460666.3:p.Ile732GlnfsTer11
ENST00000565038.2:c.212-718_212-693dup	ENSP00000459882.2:n.212-718_212-693dup
ENST00000566069.6:c.2161_2186dup	ENSP00000459237.2:p.Ile730GlnfsTer11
ENST00000697377.2:c.2167_2192dup	ENSP00000513286.2:p.Ile732GlnfsTer11
ENST00000697379.2:c.2167_2192dup	ENSP00000513287.2:p.Ile732GlnfsTer11
ENST00000561514.2:c.1276_1301dup	ENSP00000460666.2:p.Ile435GlnfsTer11
ENST00000697374.1:c.1276_1301dup	ENSP00000513284.1:p.Ile435GlnfsTer11
ENST00000697375.1:n.3508_3533dup
ENST00000697376.1:c.1276_1301dup	ENSP00000513285.1:p.Ile435GlnfsTer11
ENST00000697377.1:c.1276_1301dup	ENSP00000513286.1:p.Ile435GlnfsTer11
ENST00000697378.1:n.2681_2706dup
ENST00000697379.1:c.1276_1301dup	ENSP00000513287.1:p.Ile435GlnfsTer11
ENST00000697380.1:n.1089_1114dup
ENST00000697381.1:n.856_881dup
ENST00000697382.1:c.1276_1301dup	ENSP00000513288.1:p.Ile435GlnfsTer11
ENST00000697383.1:c.49-718_49-693dup	ENSP00000513289.1:n.49-718_49-693dup
ENST00000697384.1:n.2315_2340dup
ENST00000261584.9:c.2161_2186dup MANE Select	ENSP00000261584.4:p.Ile730GlnfsTer11
ENST00000261584.8:c.2161_2186dup	ENSP00000261584.4:p.Ile730GlnfsTer11
ENST00000565038.1:c.87-718_87-693dup
ENST00000568219.5:c.1276_1301dup	ENSP00000454703.2:p.Ile435GlnfsTer11
NM_024675.3:c.2161_2186dup , LRG_308t1:c.2161_2186dup	NP_078951.2:p.Ile730GlnfsTer11
XM_011545946.1:c.2167_2192dup	XP_011544248.1:p.Ile732GlnfsTer11
XM_011545947.1:c.2167_2192dup	XP_011544249.1:p.Ile732GlnfsTer11
XM_011545948.1:c.1276_1301dup	XP_011544250.1:p.Ile435GlnfsTer11
XR_950851.1:n.2957_2982dup
XM_011545946.2:c.2167_2192dup	XP_011544248.1:p.Ile732GlnfsTer11
XM_011545947.2:c.2167_2192dup	XP_011544249.1:p.Ile732GlnfsTer11
XM_011545948.2:c.1276_1301dup	XP_011544250.1:p.Ile435GlnfsTer11
XM_017023671.1:c.2167_2192dup	XP_016879160.1:p.Ile732GlnfsTer11
XM_017023672.2:c.2161_2186dup	XP_016879161.1:p.Ile730GlnfsTer11
XM_017023673.2:c.2161_2186dup	XP_016879162.1:p.Ile730GlnfsTer11
NM_024675.4:c.2161_2186dup MANE Select	NP_078951.2:p.Ile730GlnfsTer11