Canonical Allele Identifier: CA891844527

Gene: PALB2

Linked Data

• ClinVar Variation Id: 579303
• ClinVar RCV Id: RCV000702548 ; RCV002271571 ; RCV002388318
• dbSNP Id: rs1567221761

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635504_23635507delinsTTTTTT , CM000678.2:g.23635504_23635507delinsTTTTTT	GRCh38
NC_000016.9:g.23646825_23646828delinsTTTTTT , CM000678.1:g.23646825_23646828delinsTTTTTT	GRCh37
NC_000016.8:g.23554326_23554329delinsTTTTTT	NCBI36
NG_007406.1:g.10851_10854delinsAAAAAA , LRG_308:g.10851_10854delinsAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.1045_1048delinsAAAAAA	ENSP00000460666.3:p.Glu349LysfsTer10
ENST00000565038.2:c.211+2343_211+2346delinsAAAAAA	ENSP00000459882.2:n.211+2343_211+2346delinsAAAAAA
ENST00000566069.6:c.1039_1042delinsAAAAAA	ENSP00000459237.2:p.Glu347LysfsTer10
ENST00000697377.2:c.1045_1048delinsAAAAAA	ENSP00000513286.2:p.Glu349LysfsTer10
ENST00000697379.2:c.1045_1048delinsAAAAAA	ENSP00000513287.2:p.Glu349LysfsTer10
ENST00000561514.2:c.154_157delinsAAAAAA	ENSP00000460666.2:p.Glu52LysfsTer10
ENST00000697374.1:c.154_157delinsAAAAAA	ENSP00000513284.1:p.Glu52LysfsTer10
ENST00000697375.1:n.2386_2389delinsAAAAAA
ENST00000697376.1:c.154_157delinsAAAAAA	ENSP00000513285.1:p.Glu52LysfsTer10
ENST00000697377.1:c.154_157delinsAAAAAA	ENSP00000513286.1:p.Glu52LysfsTer10
ENST00000697378.1:n.1559_1562delinsAAAAAA
ENST00000697379.1:c.154_157delinsAAAAAA	ENSP00000513287.1:p.Glu52LysfsTer10
ENST00000697382.1:c.154_157delinsAAAAAA	ENSP00000513288.1:p.Glu52LysfsTer10
ENST00000697383.1:c.48+5603_48+5606delinsAAAAAA	ENSP00000513289.1:n.48+5603_48+5606delinsAAAAAA
ENST00000697384.1:n.1193_1196delinsAAAAAA
ENST00000261584.9:c.1039_1042delinsAAAAAA MANE Select	ENSP00000261584.4:p.Glu347LysfsTer10
ENST00000261584.8:c.1039_1042delinsAAAAAA	ENSP00000261584.4:p.Glu347LysfsTer10
ENST00000565038.1:c.86+2343_86+2346delinsAAAAAA
ENST00000568219.5:c.154_157delinsAAAAAA	ENSP00000454703.2:p.Glu52LysfsTer10
NM_024675.3:c.1039_1042delinsAAAAAA , LRG_308t1:c.1039_1042delinsAAAAAA	NP_078951.2:p.Glu347LysfsTer10
XM_011545946.1:c.1045_1048delinsAAAAAA	XP_011544248.1:p.Glu349LysfsTer10
XM_011545947.1:c.1045_1048delinsAAAAAA	XP_011544249.1:p.Glu349LysfsTer10
XM_011545948.1:c.154_157delinsAAAAAA	XP_011544250.1:p.Glu52LysfsTer10
XR_950851.1:n.1835_1838delinsAAAAAA
XM_011545946.2:c.1045_1048delinsAAAAAA	XP_011544248.1:p.Glu349LysfsTer10
XM_011545947.2:c.1045_1048delinsAAAAAA	XP_011544249.1:p.Glu349LysfsTer10
XM_011545948.2:c.154_157delinsAAAAAA	XP_011544250.1:p.Glu52LysfsTer10
XM_017023671.1:c.1045_1048delinsAAAAAA	XP_016879160.1:p.Glu349LysfsTer10
XM_017023672.2:c.1039_1042delinsAAAAAA	XP_016879161.1:p.Glu347LysfsTer10
XM_017023673.2:c.1039_1042delinsAAAAAA	XP_016879162.1:p.Glu347LysfsTer10
NM_024675.4:c.1039_1042delinsAAAAAA MANE Select	NP_078951.2:p.Glu347LysfsTer10