Canonical Allele Identifier: CA658658445

Gene: PALB2

Linked Data

• ClinVar Variation Id: 461004
• ClinVar RCV Id: RCV000556316 ; RCV000567132
• dbSNP Id: rs1555461790
• MyVariant Identifiers: chr16:g.23647410_23647425dup (hg19) ; chr16:g.23636089_23636104dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23636098_23636113dup , CM000678.2:g.23636098_23636113dup	GRCh38
NC_000016.9:g.23647419_23647434dup , CM000678.1:g.23647419_23647434dup	GRCh37
NC_000016.8:g.23554920_23554935dup	NCBI36
NG_007406.1:g.10254_10269dup , LRG_308:g.10254_10269dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.448_463dup	ENSP00000460666.3:p.Arg155LysfsTer20
ENST00000565038.2:c.211+1746_211+1761dup	ENSP00000459882.2:n.211+1746_211+1761dup
ENST00000566069.6:c.442_457dup	ENSP00000459237.2:p.Arg153LysfsTer20
ENST00000697377.2:c.448_463dup	ENSP00000513286.2:p.Arg155LysfsTer20
ENST00000697379.2:c.448_463dup	ENSP00000513287.2:p.Arg155LysfsTer20
ENST00000561514.2:c.-444_-429dup	ENSP00000460666.2:n.-444_-429dup
ENST00000697374.1:c.-444_-429dup	ENSP00000513284.1:n.-444_-429dup
ENST00000697375.1:n.1789_1804dup
ENST00000697376.1:c.-444_-429dup	ENSP00000513285.1:n.-444_-429dup
ENST00000697377.1:c.-444_-429dup	ENSP00000513286.1:n.-444_-429dup
ENST00000697378.1:n.962_977dup
ENST00000697379.1:c.-444_-429dup	ENSP00000513287.1:n.-444_-429dup
ENST00000697382.1:c.-444_-429dup	ENSP00000513288.1:n.-444_-429dup
ENST00000697383.1:c.48+5006_48+5021dup	ENSP00000513289.1:n.48+5006_48+5021dup
ENST00000697384.1:n.596_611dup
ENST00000261584.9:c.442_457dup MANE Select	ENSP00000261584.4:p.Arg153LysfsTer20
ENST00000261584.8:c.442_457dup	ENSP00000261584.4:p.Arg153LysfsTer20
ENST00000565038.1:c.86+1746_86+1761dup
ENST00000567003.1:n.720_735dup
ENST00000568219.5:c.-444_-429dup	ENSP00000454703.2:n.-444_-429dup
NM_024675.3:c.442_457dup , LRG_308t1:c.442_457dup	NP_078951.2:p.Arg153LysfsTer20
XM_011545946.1:c.448_463dup	XP_011544248.1:p.Arg155LysfsTer20
XM_011545947.1:c.448_463dup	XP_011544249.1:p.Arg155LysfsTer20
XM_011545948.1:c.-444_-429dup	XP_011544250.1:n.-444_-429dup
XR_950851.1:n.1238_1253dup
XM_011545946.2:c.448_463dup	XP_011544248.1:p.Arg155LysfsTer20
XM_011545947.2:c.448_463dup	XP_011544249.1:p.Arg155LysfsTer20
XM_011545948.2:c.-444_-429dup	XP_011544250.1:n.-444_-429dup
XM_017023671.1:c.448_463dup	XP_016879160.1:p.Arg155LysfsTer20
XM_017023672.2:c.442_457dup	XP_016879161.1:p.Arg153LysfsTer20
XM_017023673.2:c.442_457dup	XP_016879162.1:p.Arg153LysfsTer20
NM_024675.4:c.442_457dup MANE Select	NP_078951.2:p.Arg153LysfsTer20