Canonical Allele Identifier: CA2695197475

Gene: PALB2

Linked Data

• ClinVar Variation Id: 2674157
• ClinVar RCV Id: RCV003452353

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635115_23635130del , CM000678.2:g.23635115_23635130del	GRCh38
NC_000016.9:g.23646436_23646451del , CM000678.1:g.23646436_23646451del	GRCh37
NC_000016.8:g.23553937_23553952del	NCBI36
NG_007406.1:g.11228_11243del , LRG_308:g.11228_11243del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.1422_1437del	ENSP00000460666.3:p.Gln474HisfsTer8
ENST00000565038.2:c.211+2720_211+2735del	ENSP00000459882.2:n.211+2720_211+2735del
ENST00000566069.6:c.1416_1431del	ENSP00000459237.2:p.Gln472HisfsTer8
ENST00000697377.2:c.1422_1437del	ENSP00000513286.2:p.Gln474HisfsTer8
ENST00000697379.2:c.1422_1437del	ENSP00000513287.2:p.Gln474HisfsTer8
ENST00000561514.2:c.531_546del	ENSP00000460666.2:p.Gln177HisfsTer8
ENST00000697374.1:c.531_546del	ENSP00000513284.1:p.Gln177HisfsTer8
ENST00000697375.1:n.2763_2778del
ENST00000697376.1:c.531_546del	ENSP00000513285.1:p.Gln177HisfsTer8
ENST00000697377.1:c.531_546del	ENSP00000513286.1:p.Gln177HisfsTer8
ENST00000697378.1:n.1936_1951del
ENST00000697379.1:c.531_546del	ENSP00000513287.1:p.Gln177HisfsTer8
ENST00000697382.1:c.531_546del	ENSP00000513288.1:p.Gln177HisfsTer8
ENST00000697383.1:c.49-5855_49-5840del	ENSP00000513289.1:n.49-5855_49-5840del
ENST00000697384.1:n.1570_1585del
ENST00000261584.9:c.1416_1431del MANE Select	ENSP00000261584.4:p.Gln472HisfsTer8
ENST00000261584.8:c.1416_1431del	ENSP00000261584.4:p.Gln472HisfsTer8
ENST00000565038.1:c.86+2720_86+2735del
ENST00000568219.5:c.531_546del	ENSP00000454703.2:p.Gln177HisfsTer8
NM_024675.3:c.1416_1431del , LRG_308t1:c.1416_1431del	NP_078951.2:p.Gln472HisfsTer8
XM_011545946.1:c.1422_1437del	XP_011544248.1:p.Gln474HisfsTer8
XM_011545947.1:c.1422_1437del	XP_011544249.1:p.Gln474HisfsTer8
XM_011545948.1:c.531_546del	XP_011544250.1:p.Gln177HisfsTer8
XR_950851.1:n.2212_2227del
XM_011545946.2:c.1422_1437del	XP_011544248.1:p.Gln474HisfsTer8
XM_011545947.2:c.1422_1437del	XP_011544249.1:p.Gln474HisfsTer8
XM_011545948.2:c.531_546del	XP_011544250.1:p.Gln177HisfsTer8
XM_017023671.1:c.1422_1437del	XP_016879160.1:p.Gln474HisfsTer8
XM_017023672.2:c.1416_1431del	XP_016879161.1:p.Gln472HisfsTer8
XM_017023673.2:c.1416_1431del	XP_016879162.1:p.Gln472HisfsTer8
NM_024675.4:c.1416_1431del MANE Select	NP_078951.2:p.Gln472HisfsTer8