Canonical Allele Identifier: CA2695197585

Gene: PALB2

Linked Data

• ClinVar Variation Id: 2674126
• ClinVar RCV Id: RCV003452322

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23607909_23607918del , CM000678.2:g.23607909_23607918del	GRCh38
NC_000016.9:g.23619230_23619239del , CM000678.1:g.23619230_23619239del	GRCh37
NC_000016.8:g.23526731_23526740del	NCBI36
NG_007406.1:g.38442_38451del , LRG_308:g.38442_38451del

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3304_3313del	ENSP00000460666.3:p.Thr1102TrpfsTer3
ENST00000565038.2:c.*779_*788del	ENSP00000459882.2:n.*779_*788del
ENST00000566069.6:c.3202-4247_3202-4238del	ENSP00000459237.2:n.3202-4247_3202-4238de...
ENST00000697377.2:c.3142_3151del	ENSP00000513286.2:p.Thr1048TrpfsTer3
ENST00000697379.2:c.3304_3313del	ENSP00000513287.2:p.Thr1102TrpfsTer3
ENST00000561514.2:c.2413_2422del	ENSP00000460666.2:p.Thr805TrpfsTer3
ENST00000697374.1:c.2413_2422del	ENSP00000513284.1:p.Thr805TrpfsTer3
ENST00000697375.1:n.4645_4654del
ENST00000697376.1:c.2317-4247_2317-4238del	ENSP00000513285.1:n.2317-4247_2317-4238de...
ENST00000697377.1:c.2251_2260del	ENSP00000513286.1:p.Thr751TrpfsTer3
ENST00000697378.1:n.3818_3827del
ENST00000697379.1:c.2413_2422del	ENSP00000513287.1:p.Thr805TrpfsTer3
ENST00000697380.1:n.2502_2511del
ENST00000697381.1:n.1993_2002del
ENST00000697382.1:c.*75_*84del	ENSP00000513288.1:n.*75_*84del
ENST00000697383.1:c.832_841del	ENSP00000513289.1:p.Thr278TrpfsTer3
ENST00000261584.9:c.3298_3307del MANE Select	ENSP00000261584.4:p.Thr1100TrpfsTer3
ENST00000261584.8:c.3298_3307del	ENSP00000261584.4:p.Thr1100TrpfsTer3
ENST00000566069.5:c.117-4247_117-4238del
ENST00000568219.5:c.2413_2422del	ENSP00000454703.2:p.Thr805TrpfsTer3
NM_024675.3:c.3298_3307del , LRG_308t1:c.3298_3307del	NP_078951.2:p.Thr1100TrpfsTer3
XM_011545946.1:c.3304_3313del	XP_011544248.1:p.Thr1102TrpfsTer3
XM_011545947.1:c.3208-4247_3208-4238del	XP_011544249.1:n.3208-4247_3208-4238del
XM_011545948.1:c.2413_2422del	XP_011544250.1:p.Thr805TrpfsTer3
XR_950851.1:n.4006_4015del
XM_011545946.2:c.3304_3313del	XP_011544248.1:p.Thr1102TrpfsTer3
XM_011545947.2:c.3208-4247_3208-4238del	XP_011544249.1:n.3208-4247_3208-4238del
XM_011545948.2:c.2413_2422del	XP_011544250.1:p.Thr805TrpfsTer3
XM_017023671.1:c.3120-4247_3120-4238del	XP_016879160.1:n.3120-4247_3120-4238del
XM_017023672.2:c.3114-4247_3114-4238del	XP_016879161.1:n.3114-4247_3114-4238del
XM_017023673.2:c.3202-4247_3202-4238del	XP_016879162.1:n.3202-4247_3202-4238del
NM_024675.4:c.3298_3307del MANE Select	NP_078951.2:p.Thr1100TrpfsTer3