Canonical Allele Identifier: CA2695197502

Gene: PALB2

Linked Data

• ClinVar Variation Id: 2674172
• ClinVar RCV Id: RCV003452368

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635383_23635446del , CM000678.2:g.23635383_23635446del	GRCh38
NC_000016.9:g.23646704_23646767del , CM000678.1:g.23646704_23646767del	GRCh37
NC_000016.8:g.23554205_23554268del	NCBI36
NG_007406.1:g.10912_10975del , LRG_308:g.10912_10975del

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.1106_1169del	ENSP00000460666.3:p.Glu369ValfsTer?
ENST00000565038.2:c.211+2404_211+2467del	ENSP00000459882.2:n.211+2404_211+2467del
ENST00000566069.6:c.1100_1163del	ENSP00000459237.2:p.Glu367ValfsTer?
ENST00000697377.2:c.1106_1169del	ENSP00000513286.2:p.Glu369ValfsTer?
ENST00000697379.2:c.1106_1169del	ENSP00000513287.2:p.Glu369ValfsTer?
ENST00000561514.2:c.215_278del	ENSP00000460666.2:p.Glu72ValfsTer?
ENST00000697374.1:c.215_278del	ENSP00000513284.1:p.Glu72ValfsTer?
ENST00000697375.1:n.2447_2510del
ENST00000697376.1:c.215_278del	ENSP00000513285.1:p.Glu72ValfsTer?
ENST00000697377.1:c.215_278del	ENSP00000513286.1:p.Glu72ValfsTer?
ENST00000697378.1:n.1620_1683del
ENST00000697379.1:c.215_278del	ENSP00000513287.1:p.Glu72ValfsTer?
ENST00000697382.1:c.215_278del	ENSP00000513288.1:p.Glu72ValfsTer?
ENST00000697383.1:c.48+5664_48+5727del	ENSP00000513289.1:n.48+5664_48+5727del
ENST00000697384.1:n.1254_1317del
ENST00000261584.9:c.1100_1163del MANE Select	ENSP00000261584.4:p.Glu367ValfsTer?
ENST00000261584.8:c.1100_1163del	ENSP00000261584.4:p.Glu367ValfsTer?
ENST00000565038.1:c.86+2404_86+2467del
ENST00000568219.5:c.215_278del	ENSP00000454703.2:p.Glu72ValfsTer?
NM_024675.3:c.1100_1163del , LRG_308t1:c.1100_1163del	NP_078951.2:p.Glu367ValfsTer?
XM_011545946.1:c.1106_1169del	XP_011544248.1:p.Glu369ValfsTer?
XM_011545947.1:c.1106_1169del	XP_011544249.1:p.Glu369ValfsTer?
XM_011545948.1:c.215_278del	XP_011544250.1:p.Glu72ValfsTer?
XR_950851.1:n.1896_1959del
XM_011545946.2:c.1106_1169del	XP_011544248.1:p.Glu369ValfsTer?
XM_011545947.2:c.1106_1169del	XP_011544249.1:p.Glu369ValfsTer?
XM_011545948.2:c.215_278del	XP_011544250.1:p.Glu72ValfsTer?
XM_017023671.1:c.1106_1169del	XP_016879160.1:p.Glu369ValfsTer?
XM_017023672.2:c.1100_1163del	XP_016879161.1:p.Glu367ValfsTer?
XM_017023673.2:c.1100_1163del	XP_016879162.1:p.Glu367ValfsTer?
NM_024675.4:c.1100_1163del MANE Select	NP_078951.2:p.Glu367ValfsTer?