Canonical Allele Identifier: CA2695197520

Gene: PALB2

Linked Data

• ClinVar Variation Id: 2677458
• ClinVar RCV Id: RCV003476605

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23630305_23630306insGC , CM000678.2:g.23630305_23630306insGC	GRCh38
NC_000016.9:g.23641626_23641627insGC , CM000678.1:g.23641626_23641627insGC	GRCh37
NC_000016.8:g.23549127_23549128insGC	NCBI36
NG_007406.1:g.16053_16054insCG , LRG_308:g.16053_16054insCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.1855_1856insCG	ENSP00000460666.3:p.Glu619AlafsTer12
ENST00000565038.2:c.212-1030_212-1029insCG	ENSP00000459882.2:n.212-1030_212-1029insCG
ENST00000566069.6:c.1849_1850insCG	ENSP00000459237.2:p.Glu617AlafsTer12
ENST00000697377.2:c.1855_1856insCG	ENSP00000513286.2:p.Glu619AlafsTer12
ENST00000697379.2:c.1855_1856insCG	ENSP00000513287.2:p.Glu619AlafsTer12
ENST00000561514.2:c.964_965insCG	ENSP00000460666.2:p.Glu322AlafsTer12
ENST00000697374.1:c.964_965insCG	ENSP00000513284.1:p.Glu322AlafsTer12
ENST00000697375.1:n.3196_3197insCG
ENST00000697376.1:c.964_965insCG	ENSP00000513285.1:p.Glu322AlafsTer12
ENST00000697377.1:c.964_965insCG	ENSP00000513286.1:p.Glu322AlafsTer12
ENST00000697378.1:n.2369_2370insCG
ENST00000697379.1:c.964_965insCG	ENSP00000513287.1:p.Glu322AlafsTer12
ENST00000697380.1:n.777_778insCG
ENST00000697381.1:n.544_545insCG
ENST00000697382.1:c.964_965insCG	ENSP00000513288.1:p.Glu322AlafsTer12
ENST00000697383.1:c.49-1030_49-1029insCG	ENSP00000513289.1:n.49-1030_49-1029insCG
ENST00000697384.1:n.2003_2004insCG
ENST00000261584.9:c.1849_1850insCG MANE Select	ENSP00000261584.4:p.Glu617AlafsTer12
ENST00000261584.8:c.1849_1850insCG	ENSP00000261584.4:p.Glu617AlafsTer12
ENST00000565038.1:c.87-1030_87-1029insCG
ENST00000568219.5:c.964_965insCG	ENSP00000454703.2:p.Glu322AlafsTer12
NM_024675.3:c.1849_1850insCG , LRG_308t1:c.1849_1850insCG	NP_078951.2:p.Glu617AlafsTer12
XM_011545946.1:c.1855_1856insCG	XP_011544248.1:p.Glu619AlafsTer12
XM_011545947.1:c.1855_1856insCG	XP_011544249.1:p.Glu619AlafsTer12
XM_011545948.1:c.964_965insCG	XP_011544250.1:p.Glu322AlafsTer12
XR_950851.1:n.2645_2646insCG
XM_011545946.2:c.1855_1856insCG	XP_011544248.1:p.Glu619AlafsTer12
XM_011545947.2:c.1855_1856insCG	XP_011544249.1:p.Glu619AlafsTer12
XM_011545948.2:c.964_965insCG	XP_011544250.1:p.Glu322AlafsTer12
XM_017023671.1:c.1855_1856insCG	XP_016879160.1:p.Glu619AlafsTer12
XM_017023672.2:c.1849_1850insCG	XP_016879161.1:p.Glu617AlafsTer12
XM_017023673.2:c.1849_1850insCG	XP_016879162.1:p.Glu617AlafsTer12
NM_024675.4:c.1849_1850insCG MANE Select	NP_078951.2:p.Glu617AlafsTer12