Canonical Allele Identifier: CA915949192

Gene: PALB2

Linked Data

• ClinVar Variation Id: 820393
• ClinVar RCV Id: RCV001013802
• dbSNP Id: rs1597090656

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23630206_23630209del , CM000678.2:g.23630206_23630209del	GRCh38
NC_000016.9:g.23641527_23641530del , CM000678.1:g.23641527_23641530del	GRCh37
NC_000016.8:g.23549028_23549031del	NCBI36
NG_007406.1:g.16150_16153del , LRG_308:g.16150_16153del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.1952_1955del	ENSP00000460666.3:p.Lys651ArgfsTer10
ENST00000565038.2:c.212-933_212-930del	ENSP00000459882.2:n.212-933_212-930del
ENST00000566069.6:c.1946_1949del	ENSP00000459237.2:p.Lys649ArgfsTer10
ENST00000697377.2:c.1952_1955del	ENSP00000513286.2:p.Lys651ArgfsTer10
ENST00000697379.2:c.1952_1955del	ENSP00000513287.2:p.Lys651ArgfsTer10
ENST00000561514.2:c.1061_1064del	ENSP00000460666.2:p.Lys354ArgfsTer10
ENST00000697374.1:c.1061_1064del	ENSP00000513284.1:p.Lys354ArgfsTer10
ENST00000697375.1:n.3293_3296del
ENST00000697376.1:c.1061_1064del	ENSP00000513285.1:p.Lys354ArgfsTer10
ENST00000697377.1:c.1061_1064del	ENSP00000513286.1:p.Lys354ArgfsTer10
ENST00000697378.1:n.2466_2469del
ENST00000697379.1:c.1061_1064del	ENSP00000513287.1:p.Lys354ArgfsTer10
ENST00000697380.1:n.874_877del
ENST00000697381.1:n.641_644del
ENST00000697382.1:c.1061_1064del	ENSP00000513288.1:p.Lys354ArgfsTer10
ENST00000697383.1:c.49-933_49-930del	ENSP00000513289.1:n.49-933_49-930del
ENST00000697384.1:n.2100_2103del
ENST00000261584.9:c.1946_1949del MANE Select	ENSP00000261584.4:p.Lys649ArgfsTer10
ENST00000261584.8:c.1946_1949del	ENSP00000261584.4:p.Lys649ArgfsTer10
ENST00000565038.1:c.87-933_87-930del
ENST00000568219.5:c.1061_1064del	ENSP00000454703.2:p.Lys354ArgfsTer10
NM_024675.3:c.1946_1949del , LRG_308t1:c.1946_1949del	NP_078951.2:p.Lys649ArgfsTer10
XM_011545946.1:c.1952_1955del	XP_011544248.1:p.Lys651ArgfsTer10
XM_011545947.1:c.1952_1955del	XP_011544249.1:p.Lys651ArgfsTer10
XM_011545948.1:c.1061_1064del	XP_011544250.1:p.Lys354ArgfsTer10
XR_950851.1:n.2742_2745del
XM_011545946.2:c.1952_1955del	XP_011544248.1:p.Lys651ArgfsTer10
XM_011545947.2:c.1952_1955del	XP_011544249.1:p.Lys651ArgfsTer10
XM_011545948.2:c.1061_1064del	XP_011544250.1:p.Lys354ArgfsTer10
XM_017023671.1:c.1952_1955del	XP_016879160.1:p.Lys651ArgfsTer10
XM_017023672.2:c.1946_1949del	XP_016879161.1:p.Lys649ArgfsTer10
XM_017023673.2:c.1946_1949del	XP_016879162.1:p.Lys649ArgfsTer10
NM_024675.4:c.1946_1949del MANE Select	NP_078951.2:p.Lys649ArgfsTer10