Canonical Allele Identifier: CA2695197453

Gene: PALB2

Linked Data

• ClinVar Variation Id: 2674149
• ClinVar RCV Id: RCV003452345

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23629255_23629261del , CM000678.2:g.23629255_23629261del	GRCh38
NC_000016.9:g.23640576_23640582del , CM000678.1:g.23640576_23640582del	GRCh37
NC_000016.8:g.23548077_23548083del	NCBI36
NG_007406.1:g.17102_17108del , LRG_308:g.17102_17108del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.2540_2546del	ENSP00000460666.3:p.Pro847LeufsTer4
ENST00000565038.2:c.*15_*21del	ENSP00000459882.2:n.*15_*21del
ENST00000566069.6:c.2534_2540del	ENSP00000459237.2:p.Pro845LeufsTer4
ENST00000697377.2:c.2540_2546del	ENSP00000513286.2:p.Pro847LeufsTer4
ENST00000697379.2:c.2540_2546del	ENSP00000513287.2:p.Pro847LeufsTer4
ENST00000561514.2:c.1649_1655del	ENSP00000460666.2:p.Pro550LeufsTer4
ENST00000697374.1:c.1649_1655del	ENSP00000513284.1:p.Pro550LeufsTer4
ENST00000697375.1:n.3881_3887del
ENST00000697376.1:c.1649_1655del	ENSP00000513285.1:p.Pro550LeufsTer4
ENST00000697377.1:c.1649_1655del	ENSP00000513286.1:p.Pro550LeufsTer4
ENST00000697378.1:n.3054_3060del
ENST00000697379.1:c.1649_1655del	ENSP00000513287.1:p.Pro550LeufsTer4
ENST00000697380.1:n.1826_1832del
ENST00000697381.1:n.1229_1235del
ENST00000697382.1:c.1649_1655del	ENSP00000513288.1:p.Pro550LeufsTer4
ENST00000697383.1:c.68_74del	ENSP00000513289.1:p.Pro23LeufsTer4
ENST00000697384.1:n.2688_2694del
ENST00000261584.9:c.2534_2540del MANE Select	ENSP00000261584.4:p.Pro845LeufsTer4
ENST00000261584.8:c.2534_2540del	ENSP00000261584.4:p.Pro845LeufsTer4
ENST00000565038.1:c.106_112del
ENST00000568219.5:c.1649_1655del	ENSP00000454703.2:p.Pro550LeufsTer4
NM_024675.3:c.2534_2540del , LRG_308t1:c.2534_2540del	NP_078951.2:p.Pro845LeufsTer4
XM_011545946.1:c.2540_2546del	XP_011544248.1:p.Pro847LeufsTer4
XM_011545947.1:c.2540_2546del	XP_011544249.1:p.Pro847LeufsTer4
XM_011545948.1:c.1649_1655del	XP_011544250.1:p.Pro550LeufsTer4
XR_950851.1:n.3330_3336del
XM_011545946.2:c.2540_2546del	XP_011544248.1:p.Pro847LeufsTer4
XM_011545947.2:c.2540_2546del	XP_011544249.1:p.Pro847LeufsTer4
XM_011545948.2:c.1649_1655del	XP_011544250.1:p.Pro550LeufsTer4
XM_017023671.1:c.2540_2546del	XP_016879160.1:p.Pro847LeufsTer4
XM_017023672.2:c.2534_2540del	XP_016879161.1:p.Pro845LeufsTer4
XM_017023673.2:c.2534_2540del	XP_016879162.1:p.Pro845LeufsTer4
NM_024675.4:c.2534_2540del MANE Select	NP_078951.2:p.Pro845LeufsTer4