Canonical Allele Identifier: CA2580612723

Gene: PALB2

Linked Data

• ClinVar Variation Id: 2576368
• ClinVar RCV Id: RCV003322427

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23623075_23623076del , CM000678.2:g.23623075_23623076del	GRCh38
NC_000016.9:g.23634396_23634397del , CM000678.1:g.23634396_23634397del	GRCh37
NC_000016.8:g.23541897_23541898del	NCBI36
NG_007406.1:g.23282_23283del , LRG_308:g.23282_23283del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.2895_2896del	ENSP00000460666.3:p.Gly966LysfsTer15
ENST00000565038.2:c.*370_*371del	ENSP00000459882.2:n.*370_*371del
ENST00000566069.6:c.2889_2890del	ENSP00000459237.2:p.Gly964LysfsTer15
ENST00000697377.2:c.2733_2734del	ENSP00000513286.2:p.Gly912LysfsTer15
ENST00000697379.2:c.2895_2896del	ENSP00000513287.2:p.Gly966LysfsTer15
ENST00000561514.2:c.2004_2005del	ENSP00000460666.2:p.Gly669LysfsTer15
ENST00000697374.1:c.2004_2005del	ENSP00000513284.1:p.Gly669LysfsTer15
ENST00000697375.1:n.4236_4237del
ENST00000697376.1:c.2004_2005del	ENSP00000513285.1:p.Gly669LysfsTer15
ENST00000697377.1:c.1842_1843del	ENSP00000513286.1:p.Gly615LysfsTer15
ENST00000697378.1:n.3409_3410del
ENST00000697379.1:c.2004_2005del	ENSP00000513287.1:p.Gly669LysfsTer15
ENST00000697380.1:n.2181_2182del
ENST00000697381.1:n.1584_1585del
ENST00000697382.1:c.2004_2005del	ENSP00000513288.1:p.Gly669LysfsTer15
ENST00000697383.1:c.423_424del	ENSP00000513289.1:p.Gly142LysfsTer15
ENST00000261584.9:c.2889_2890del MANE Select	ENSP00000261584.4:p.Gly964LysfsTer15
ENST00000261584.8:c.2889_2890del	ENSP00000261584.4:p.Gly964LysfsTer15
ENST00000568219.5:c.2004_2005del	ENSP00000454703.2:p.Gly669LysfsTer15
NM_024675.3:c.2889_2890del , LRG_308t1:c.2889_2890del	NP_078951.2:p.Gly964LysfsTer15
XM_011545946.1:c.2895_2896del	XP_011544248.1:p.Gly966LysfsTer15
XM_011545947.1:c.2895_2896del	XP_011544249.1:p.Gly966LysfsTer15
XM_011545948.1:c.2004_2005del	XP_011544250.1:p.Gly669LysfsTer15
XR_950851.1:n.3685_3686del
XM_011545946.2:c.2895_2896del	XP_011544248.1:p.Gly966LysfsTer15
XM_011545947.2:c.2895_2896del	XP_011544249.1:p.Gly966LysfsTer15
XM_011545948.2:c.2004_2005del	XP_011544250.1:p.Gly669LysfsTer15
XM_017023671.1:c.2895_2896del	XP_016879160.1:p.Gly966LysfsTer15
XM_017023672.2:c.2889_2890del	XP_016879161.1:p.Gly964LysfsTer15
XM_017023673.2:c.2889_2890del	XP_016879162.1:p.Gly964LysfsTer15
NM_024675.4:c.2889_2890del MANE Select	NP_078951.2:p.Gly964LysfsTer15