Canonical Allele Identifier: CA7963886

Gene: PALB2

Linked Data

• ClinVar Variation Id: 231830
• ClinVar RCV Id: RCV000219523 ; RCV000677894 ; RCV000985894 ; RCV001175516 ; RCV000817877
• dbSNP Id: rs745444171
• ExAC: 16:23652439 TCTC / T
• gnomAD v2: 16-23652439-TCTC-T
• gnomAD v3: 16-23641118-TCTC-T
• gnomAD v4: 16-23641118-TCTC-T
• MyVariant Identifiers: chr16:g.23652440_23652442del (hg19) ; chr16:g.23641119_23641121del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23641122_23641124del , CM000678.2:g.23641122_23641124del	GRCh38
NC_000016.9:g.23652443_23652445del , CM000678.1:g.23652443_23652445del	GRCh37
NC_000016.8:g.23559944_23559946del	NCBI36
NG_007406.1:g.5237_5239del , LRG_308:g.5237_5239del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.-816_-814del	ENSP00000460666.3:n.-816_-814del
ENST00000565038.2:c.37_39del	ENSP00000459882.2:p.Glu13del
ENST00000566069.6:c.37_39del	ENSP00000459237.2:p.Glu13del
ENST00000697377.2:c.-203_-201del	ENSP00000513286.2:n.-203_-201del
ENST00000697379.2:c.-109_-107del	ENSP00000513287.2:n.-109_-107del
ENST00000561514.2:c.-1707_-1705del	ENSP00000460666.2:n.-1707_-1705del
ENST00000697374.1:c.-1298_-1296del	ENSP00000513284.1:n.-1298_-1296del
ENST00000697376.1:c.-1019_-1017del	ENSP00000513285.1:n.-1019_-1017del
ENST00000697377.1:c.-1094_-1092del	ENSP00000513286.1:n.-1094_-1092del
ENST00000697379.1:c.-1000_-998del	ENSP00000513287.1:n.-1000_-998del
ENST00000697382.1:c.-1758_-1756del	ENSP00000513288.1:n.-1758_-1756del
ENST00000697383.1:c.37_39del	ENSP00000513289.1:p.Glu13del
ENST00000697384.1:n.191_193del
ENST00000261584.9:c.37_39del MANE Select	ENSP00000261584.4:p.Glu13del
ENST00000261584.8:c.37_39del	ENSP00000261584.4:p.Glu13del
ENST00000567003.1:n.181_183del
ENST00000568219.5:c.-838+6_-838+8del	ENSP00000454703.2:n.-838+6_-838+8del
NM_024675.3:c.37_39del , LRG_308t1:c.37_39del	NP_078951.2:p.Glu13del
XM_011545948.1:c.-983_-981del	XP_011544250.1:n.-983_-981del
XM_011545946.2:c.-816_-814del	XP_011544248.1:n.-816_-814del
XM_011545947.2:c.-816_-814del	XP_011544249.1:n.-816_-814del
XM_011545948.2:c.-983_-981del	XP_011544250.1:n.-983_-981del
XM_017023671.1:c.-816_-814del	XP_016879160.1:n.-816_-814del
XM_017023672.2:c.37_39del	XP_016879161.1:p.Glu13del
XM_017023673.2:c.37_39del	XP_016879162.1:p.Glu13del
NM_024675.4:c.37_39del MANE Select	NP_078951.2:p.Glu13del