Canonical Allele Identifier: CA2582342516

Gene: PALB2

Linked Data

• ClinVar Variation Id: 2587415
• ClinVar RCV Id: RCV003350695

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635020_23635021delinsAA , CM000678.2:g.23635020_23635021delinsAA	GRCh38
NC_000016.9:g.23646341_23646342delinsAA , CM000678.1:g.23646341_23646342delinsAA	GRCh37
NC_000016.8:g.23553842_23553843delinsAA	NCBI36
NG_007406.1:g.11337_11338delinsTT , LRG_308:g.11337_11338delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.1531_1532delinsTT	ENSP00000460666.3:p.Gly511Phe
ENST00000565038.2:c.211+2829_211+2830delinsTT	ENSP00000459882.2:n.211+2829_211+2830delinsTT
ENST00000566069.6:c.1525_1526delinsTT	ENSP00000459237.2:p.Gly509Phe
ENST00000697377.2:c.1531_1532delinsTT	ENSP00000513286.2:p.Gly511Phe
ENST00000697379.2:c.1531_1532delinsTT	ENSP00000513287.2:p.Gly511Phe
ENST00000561514.2:c.640_641delinsTT	ENSP00000460666.2:p.Gly214Phe
ENST00000697374.1:c.640_641delinsTT	ENSP00000513284.1:p.Gly214Phe
ENST00000697375.1:n.2872_2873delinsTT
ENST00000697376.1:c.640_641delinsTT	ENSP00000513285.1:p.Gly214Phe
ENST00000697377.1:c.640_641delinsTT	ENSP00000513286.1:p.Gly214Phe
ENST00000697378.1:n.2045_2046delinsTT
ENST00000697379.1:c.640_641delinsTT	ENSP00000513287.1:p.Gly214Phe
ENST00000697382.1:c.640_641delinsTT	ENSP00000513288.1:p.Gly214Phe
ENST00000697383.1:c.49-5746_49-5745delinsTT	ENSP00000513289.1:n.49-5746_49-5745delinsTT
ENST00000697384.1:n.1679_1680delinsTT
ENST00000261584.9:c.1525_1526delinsTT MANE Select	ENSP00000261584.4:p.Gly509Phe
ENST00000261584.8:c.1525_1526delinsTT	ENSP00000261584.4:p.Gly509Phe
ENST00000565038.1:c.86+2829_86+2830delinsTT
ENST00000568219.5:c.640_641delinsTT	ENSP00000454703.2:p.Gly214Phe
NM_024675.3:c.1525_1526delinsTT , LRG_308t1:c.1525_1526delinsTT	NP_078951.2:p.Gly509Phe
XM_011545946.1:c.1531_1532delinsTT	XP_011544248.1:p.Gly511Phe
XM_011545947.1:c.1531_1532delinsTT	XP_011544249.1:p.Gly511Phe
XM_011545948.1:c.640_641delinsTT	XP_011544250.1:p.Gly214Phe
XR_950851.1:n.2321_2322delinsTT
XM_011545946.2:c.1531_1532delinsTT	XP_011544248.1:p.Gly511Phe
XM_011545947.2:c.1531_1532delinsTT	XP_011544249.1:p.Gly511Phe
XM_011545948.2:c.640_641delinsTT	XP_011544250.1:p.Gly214Phe
XM_017023671.1:c.1531_1532delinsTT	XP_016879160.1:p.Gly511Phe
XM_017023672.2:c.1525_1526delinsTT	XP_016879161.1:p.Gly509Phe
XM_017023673.2:c.1525_1526delinsTT	XP_016879162.1:p.Gly509Phe
NM_024675.4:c.1525_1526delinsTT MANE Select	NP_078951.2:p.Gly509Phe