Canonical Allele Identifier: CA621335747

Gene: PALB2

Linked Data

• dbSNP Id: rs1196648246
• gnomAD v2: 16-23649034-A-ATAAAAT
• gnomAD v3: 16-23637713-A-ATAAAAT
• gnomAD v4: 16-23637713-A-ATAAAAT
• MyVariant Identifiers: chr16:g.23649046_23649047insTAAAAT (hg19) ; chr16:g.23649034_23649035insTAAAAT (hg19) ; chr16:g.23637725_23637726insTAAAAT (hg38) ; chr16:g.23637713_23637714insTAAAAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23637736_23637741dup , CM000678.2:g.23637736_23637741dup	GRCh38
NC_000016.9:g.23649057_23649062dup , CM000678.1:g.23649057_23649062dup	GRCh37
NC_000016.8:g.23556558_23556563dup	NCBI36
NG_007406.1:g.8639_8644dup , LRG_308:g.8639_8644dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.217+131_217+136dup	ENSP00000460666.3:n.217+131_217+136dup
ENST00000565038.2:c.211+131_211+136dup	ENSP00000459882.2:n.211+131_211+136dup
ENST00000566069.6:c.211+131_211+136dup	ENSP00000459237.2:n.211+131_211+136dup
ENST00000697377.2:c.217+131_217+136dup	ENSP00000513286.2:n.217+131_217+136dup
ENST00000697379.2:c.217+131_217+136dup	ENSP00000513287.2:n.217+131_217+136dup
ENST00000561514.2:c.-675+131_-675+136dup	ENSP00000460666.2:n.-675+131_-675+136dup
ENST00000697374.1:c.-675+131_-675+136dup	ENSP00000513284.1:n.-675+131_-675+136dup
ENST00000697375.1:n.1558+131_1558+136dup
ENST00000697376.1:c.-675+131_-675+136dup	ENSP00000513285.1:n.-675+131_-675+136dup
ENST00000697377.1:c.-675+131_-675+136dup	ENSP00000513286.1:n.-675+131_-675+136dup
ENST00000697378.1:n.731+131_731+136dup
ENST00000697379.1:c.-675+131_-675+136dup	ENSP00000513287.1:n.-675+131_-675+136dup
ENST00000697382.1:c.-675+131_-675+136dup	ENSP00000513288.1:n.-675+131_-675+136dup
ENST00000697383.1:c.48+3391_48+3396dup	ENSP00000513289.1:n.48+3391_48+3396dup
ENST00000697384.1:n.365+131_365+136dup
ENST00000261584.9:c.211+131_211+136dup MANE Select	ENSP00000261584.4:n.211+131_211+136dup
ENST00000261584.8:c.211+131_211+136dup	ENSP00000261584.4:n.211+131_211+136dup
ENST00000561514.1:c.217+131_217+136dup	ENSP00000460666.1:n.217+131_217+136dup
ENST00000565038.1:c.86+131_86+136dup
ENST00000567003.1:n.489+131_489+136dup
ENST00000568219.5:c.-675+131_-675+136dup	ENSP00000454703.2:n.-675+131_-675+136dup
NM_024675.3:c.211+131_211+136dup , LRG_308t1:c.211+131_211+136dup	NP_078951.2:n.211+131_211+136dup
XM_011545946.1:c.217+131_217+136dup	XP_011544248.1:n.217+131_217+136dup
XM_011545947.1:c.217+131_217+136dup	XP_011544249.1:n.217+131_217+136dup
XM_011545948.1:c.-675+131_-675+136dup	XP_011544250.1:n.-675+131_-675+136dup
XR_950851.1:n.1007+131_1007+136dup
XM_011545946.2:c.217+131_217+136dup	XP_011544248.1:n.217+131_217+136dup
XM_011545947.2:c.217+131_217+136dup	XP_011544249.1:n.217+131_217+136dup
XM_011545948.2:c.-675+131_-675+136dup	XP_011544250.1:n.-675+131_-675+136dup
XM_017023671.1:c.217+131_217+136dup	XP_016879160.1:n.217+131_217+136dup
XM_017023672.2:c.211+131_211+136dup	XP_016879161.1:n.211+131_211+136dup
XM_017023673.2:c.211+131_211+136dup	XP_016879162.1:n.211+131_211+136dup
NM_024675.4:c.211+131_211+136dup MANE Select	NP_078951.2:n.211+131_211+136dup