Canonical Allele Identifier: CA16620167

Gene: PALB2

Linked Data

• ClinVar Variation Id: 422307
• ClinVar RCV Id: RCV000479020
• dbSNP Id: rs1040725416
• gnomAD v3: 16-23641175-G-GA
• gnomAD v4: 16-23641175-G-GA
• MyVariant Identifiers: chr16:g.23652497dupA (hg19) ; chr16:g.23652496_23652497insA (hg19) ; chr16:g.23641176dupA (hg38) ; chr16:g.23641175_23641176insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23641179dup , CM000678.2:g.23641179dup	GRCh38
NC_000016.9:g.23652500dup , CM000678.1:g.23652500dup	GRCh37
NC_000016.8:g.23560001dup	NCBI36
NG_007406.1:g.5182dup , LRG_308:g.5182dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.-871dup	ENSP00000460666.3:n.-871dup
ENST00000565038.2:c.-19dup	ENSP00000459882.2:n.-19dup
ENST00000566069.6:c.-19dup	ENSP00000459237.2:n.-19dup
ENST00000697377.2:c.-258dup	ENSP00000513286.2:n.-258dup
ENST00000697379.2:c.-164dup	ENSP00000513287.2:n.-164dup
ENST00000561514.2:c.-1762dup	ENSP00000460666.2:n.-1762dup
ENST00000697374.1:c.-1353dup	ENSP00000513284.1:n.-1353dup
ENST00000697376.1:c.-1074dup	ENSP00000513285.1:n.-1074dup
ENST00000697377.1:c.-1149dup	ENSP00000513286.1:n.-1149dup
ENST00000697379.1:c.-1055dup	ENSP00000513287.1:n.-1055dup
ENST00000697382.1:c.-1813dup	ENSP00000513288.1:n.-1813dup
ENST00000697383.1:c.-19dup	ENSP00000513289.1:n.-19dup
ENST00000697384.1:n.136dup
ENST00000261584.9:c.-19dup MANE Select	ENSP00000261584.4:n.-19dup
ENST00000261584.8:c.-19dup	ENSP00000261584.4:n.-19dup
ENST00000567003.1:n.126dup
ENST00000568219.5:c.-887dup	ENSP00000454703.2:n.-887dup
NM_024675.3:c.-19dup , LRG_308t1:c.-19dup	NP_078951.2:n.-19dup
XM_011545948.1:c.-1038dup	XP_011544250.1:n.-1038dup
XM_011545946.2:c.-871dup	XP_011544248.1:n.-871dup
XM_011545947.2:c.-871dup	XP_011544249.1:n.-871dup
XM_011545948.2:c.-1038dup	XP_011544250.1:n.-1038dup
XM_017023671.1:c.-871dup	XP_016879160.1:n.-871dup
XM_017023672.2:c.-19dup	XP_016879161.1:n.-19dup
XM_017023673.2:c.-19dup	XP_016879162.1:n.-19dup
NM_024675.4:c.-19dup MANE Select	NP_078951.2:n.-19dup