Canonical Allele Identifier: CA621661723

Gene: PALB2

Linked Data

• dbSNP Id: rs1369875940
• gnomAD v2: 16-23641526-TC-T
• gnomAD v4: 16-23630205-TC-T
• MyVariant Identifiers: chr16:g.23641527del (hg19) ; chr16:g.23630206del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23630206del , CM000678.2:g.23630206del	GRCh38
NC_000016.9:g.23641527del , CM000678.1:g.23641527del	GRCh37
NC_000016.8:g.23549028del	NCBI36
NG_007406.1:g.16152del , LRG_308:g.16152del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.1954del	ENSP00000460666.3:p.Glu652ArgfsTer10
ENST00000565038.2:c.212-931del	ENSP00000459882.2:n.212-931del
ENST00000566069.6:c.1948del	ENSP00000459237.2:p.Glu650ArgfsTer10
ENST00000697377.2:c.1954del	ENSP00000513286.2:p.Glu652ArgfsTer10
ENST00000697379.2:c.1954del	ENSP00000513287.2:p.Glu652ArgfsTer10
ENST00000561514.2:c.1063del	ENSP00000460666.2:p.Glu355ArgfsTer10
ENST00000697374.1:c.1063del	ENSP00000513284.1:p.Glu355ArgfsTer10
ENST00000697375.1:n.3295del
ENST00000697376.1:c.1063del	ENSP00000513285.1:p.Glu355ArgfsTer10
ENST00000697377.1:c.1063del	ENSP00000513286.1:p.Glu355ArgfsTer10
ENST00000697378.1:n.2468del
ENST00000697379.1:c.1063del	ENSP00000513287.1:p.Glu355ArgfsTer10
ENST00000697380.1:n.876del
ENST00000697381.1:n.643del
ENST00000697382.1:c.1063del	ENSP00000513288.1:p.Glu355ArgfsTer10
ENST00000697383.1:c.49-931del	ENSP00000513289.1:n.49-931del
ENST00000697384.1:n.2102del
ENST00000261584.9:c.1948del MANE Select	ENSP00000261584.4:p.Glu650ArgfsTer10
ENST00000261584.8:c.1948del	ENSP00000261584.4:p.Glu650ArgfsTer10
ENST00000565038.1:c.87-931del
ENST00000568219.5:c.1063del	ENSP00000454703.2:p.Glu355ArgfsTer10
NM_024675.3:c.1948del , LRG_308t1:c.1948del	NP_078951.2:p.Glu650ArgfsTer10
XM_011545946.1:c.1954del	XP_011544248.1:p.Glu652ArgfsTer10
XM_011545947.1:c.1954del	XP_011544249.1:p.Glu652ArgfsTer10
XM_011545948.1:c.1063del	XP_011544250.1:p.Glu355ArgfsTer10
XR_950851.1:n.2744del
XM_011545946.2:c.1954del	XP_011544248.1:p.Glu652ArgfsTer10
XM_011545947.2:c.1954del	XP_011544249.1:p.Glu652ArgfsTer10
XM_011545948.2:c.1063del	XP_011544250.1:p.Glu355ArgfsTer10
XM_017023671.1:c.1954del	XP_016879160.1:p.Glu652ArgfsTer10
XM_017023672.2:c.1948del	XP_016879161.1:p.Glu650ArgfsTer10
XM_017023673.2:c.1948del	XP_016879162.1:p.Glu650ArgfsTer10
NM_024675.4:c.1948del MANE Select	NP_078951.2:p.Glu650ArgfsTer10