Canonical Allele Identifier: CA2580091355

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1788281
• ClinVar RCV Id: RCV002420183

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23629909_23629913del , CM000678.2:g.23629909_23629913del	GRCh38
NC_000016.9:g.23641230_23641234del , CM000678.1:g.23641230_23641234del	GRCh37
NC_000016.8:g.23548731_23548735del	NCBI36
NG_007406.1:g.16445_16449del , LRG_308:g.16445_16449del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.2247_2251del	ENSP00000460666.3:p.Thr750SerfsTer23
ENST00000565038.2:c.212-638_212-634del	ENSP00000459882.2:n.212-638_212-634del
ENST00000566069.6:c.2241_2245del	ENSP00000459237.2:p.Thr748SerfsTer23
ENST00000697377.2:c.2247_2251del	ENSP00000513286.2:p.Thr750SerfsTer23
ENST00000697379.2:c.2247_2251del	ENSP00000513287.2:p.Thr750SerfsTer23
ENST00000561514.2:c.1356_1360del	ENSP00000460666.2:p.Thr453SerfsTer23
ENST00000697374.1:c.1356_1360del	ENSP00000513284.1:p.Thr453SerfsTer23
ENST00000697375.1:n.3588_3592del
ENST00000697376.1:c.1356_1360del	ENSP00000513285.1:p.Thr453SerfsTer23
ENST00000697377.1:c.1356_1360del	ENSP00000513286.1:p.Thr453SerfsTer23
ENST00000697378.1:n.2761_2765del
ENST00000697379.1:c.1356_1360del	ENSP00000513287.1:p.Thr453SerfsTer23
ENST00000697380.1:n.1169_1173del
ENST00000697381.1:n.936_940del
ENST00000697382.1:c.1356_1360del	ENSP00000513288.1:p.Thr453SerfsTer23
ENST00000697383.1:c.49-638_49-634del	ENSP00000513289.1:n.49-638_49-634del
ENST00000697384.1:n.2395_2399del
ENST00000261584.9:c.2241_2245del MANE Select	ENSP00000261584.4:p.Thr748SerfsTer23
ENST00000261584.8:c.2241_2245del	ENSP00000261584.4:p.Thr748SerfsTer23
ENST00000565038.1:c.87-638_87-634del
ENST00000568219.5:c.1356_1360del	ENSP00000454703.2:p.Thr453SerfsTer23
NM_024675.3:c.2241_2245del , LRG_308t1:c.2241_2245del	NP_078951.2:p.Thr748SerfsTer23
XM_011545946.1:c.2247_2251del	XP_011544248.1:p.Thr750SerfsTer23
XM_011545947.1:c.2247_2251del	XP_011544249.1:p.Thr750SerfsTer23
XM_011545948.1:c.1356_1360del	XP_011544250.1:p.Thr453SerfsTer23
XR_950851.1:n.3037_3041del
XM_011545946.2:c.2247_2251del	XP_011544248.1:p.Thr750SerfsTer23
XM_011545947.2:c.2247_2251del	XP_011544249.1:p.Thr750SerfsTer23
XM_011545948.2:c.1356_1360del	XP_011544250.1:p.Thr453SerfsTer23
XM_017023671.1:c.2247_2251del	XP_016879160.1:p.Thr750SerfsTer23
XM_017023672.2:c.2241_2245del	XP_016879161.1:p.Thr748SerfsTer23
XM_017023673.2:c.2241_2245del	XP_016879162.1:p.Thr748SerfsTer23
NM_024675.4:c.2241_2245del MANE Select	NP_078951.2:p.Thr748SerfsTer23