Canonical Allele Identifier: CA2580091280

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1773008
• ClinVar RCV Id: RCV002394664 ; RCV003320274

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635092_23635095del , CM000678.2:g.23635092_23635095del	GRCh38
NC_000016.9:g.23646413_23646416del , CM000678.1:g.23646413_23646416del	GRCh37
NC_000016.8:g.23553914_23553917del	NCBI36
NG_007406.1:g.11266_11269del , LRG_308:g.11266_11269del

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.1460_1463del	ENSP00000460666.3:p.Thr487LysfsTer?
ENST00000565038.2:c.211+2758_211+2761del	ENSP00000459882.2:n.211+2758_211+2761del
ENST00000566069.6:c.1454_1457del	ENSP00000459237.2:p.Thr485LysfsTer?
ENST00000697377.2:c.1460_1463del	ENSP00000513286.2:p.Thr487LysfsTer?
ENST00000697379.2:c.1460_1463del	ENSP00000513287.2:p.Thr487LysfsTer?
ENST00000561514.2:c.569_572del	ENSP00000460666.2:p.Thr190LysfsTer?
ENST00000697374.1:c.569_572del	ENSP00000513284.1:p.Thr190LysfsTer?
ENST00000697375.1:n.2801_2804del
ENST00000697376.1:c.569_572del	ENSP00000513285.1:p.Thr190LysfsTer?
ENST00000697377.1:c.569_572del	ENSP00000513286.1:p.Thr190LysfsTer?
ENST00000697378.1:n.1974_1977del
ENST00000697379.1:c.569_572del	ENSP00000513287.1:p.Thr190LysfsTer?
ENST00000697382.1:c.569_572del	ENSP00000513288.1:p.Thr190LysfsTer?
ENST00000697383.1:c.49-5817_49-5814del	ENSP00000513289.1:n.49-5817_49-5814del
ENST00000697384.1:n.1608_1611del
ENST00000261584.9:c.1454_1457del MANE Select	ENSP00000261584.4:p.Thr485LysfsTer?
ENST00000261584.8:c.1454_1457del	ENSP00000261584.4:p.Thr485LysfsTer?
ENST00000565038.1:c.86+2758_86+2761del
ENST00000568219.5:c.569_572del	ENSP00000454703.2:p.Thr190LysfsTer?
NM_024675.3:c.1454_1457del , LRG_308t1:c.1454_1457del	NP_078951.2:p.Thr485LysfsTer?
XM_011545946.1:c.1460_1463del	XP_011544248.1:p.Thr487LysfsTer?
XM_011545947.1:c.1460_1463del	XP_011544249.1:p.Thr487LysfsTer?
XM_011545948.1:c.569_572del	XP_011544250.1:p.Thr190LysfsTer?
XR_950851.1:n.2250_2253del
XM_011545946.2:c.1460_1463del	XP_011544248.1:p.Thr487LysfsTer?
XM_011545947.2:c.1460_1463del	XP_011544249.1:p.Thr487LysfsTer?
XM_011545948.2:c.569_572del	XP_011544250.1:p.Thr190LysfsTer?
XM_017023671.1:c.1460_1463del	XP_016879160.1:p.Thr487LysfsTer?
XM_017023672.2:c.1454_1457del	XP_016879161.1:p.Thr485LysfsTer?
XM_017023673.2:c.1454_1457del	XP_016879162.1:p.Thr485LysfsTer?
NM_024675.4:c.1454_1457del MANE Select	NP_078951.2:p.Thr485LysfsTer?