Canonical Allele Identifier: CA2582342508

Gene: PALB2

Linked Data

• ClinVar Variation Id: 2583839
• ClinVar RCV Id: RCV003334761
• gnomAD v4: 16-23607908-GCTGAGAGTCGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23607911_23607921del , CM000678.2:g.23607911_23607921del	GRCh38
NC_000016.9:g.23619232_23619242del , CM000678.1:g.23619232_23619242del	GRCh37
NC_000016.8:g.23526733_23526743del	NCBI36
NG_007406.1:g.38439_38449del , LRG_308:g.38439_38449del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3301_3311del	ENSP00000460666.3:p.Thr1101ArgfsTer20
ENST00000565038.2:c.*776_*786del	ENSP00000459882.2:n.*776_*786del
ENST00000566069.6:c.3202-4250_3202-4240del	ENSP00000459237.2:n.3202-4250_3202-4240del
ENST00000697377.2:c.3139_3149del	ENSP00000513286.2:p.Thr1047ArgfsTer20
ENST00000697379.2:c.3301_3311del	ENSP00000513287.2:p.Thr1101ArgfsTer20
ENST00000561514.2:c.2410_2420del	ENSP00000460666.2:p.Thr804ArgfsTer20
ENST00000697374.1:c.2410_2420del	ENSP00000513284.1:p.Thr804ArgfsTer20
ENST00000697375.1:n.4642_4652del
ENST00000697376.1:c.2317-4250_2317-4240del	ENSP00000513285.1:n.2317-4250_2317-4240del
ENST00000697377.1:c.2248_2258del	ENSP00000513286.1:p.Thr750ArgfsTer20
ENST00000697378.1:n.3815_3825del
ENST00000697379.1:c.2410_2420del	ENSP00000513287.1:p.Thr804ArgfsTer20
ENST00000697380.1:n.2499_2509del
ENST00000697381.1:n.1990_2000del
ENST00000697382.1:c.*72_*82del	ENSP00000513288.1:n.*72_*82del
ENST00000697383.1:c.829_839del	ENSP00000513289.1:p.Thr277ArgfsTer20
ENST00000261584.9:c.3295_3305del MANE Select	ENSP00000261584.4:p.Thr1099ArgfsTer20
ENST00000261584.8:c.3295_3305del	ENSP00000261584.4:p.Thr1099ArgfsTer20
ENST00000566069.5:c.117-4250_117-4240del
ENST00000568219.5:c.2410_2420del	ENSP00000454703.2:p.Thr804ArgfsTer20
NM_024675.3:c.3295_3305del , LRG_308t1:c.3295_3305del	NP_078951.2:p.Thr1099ArgfsTer20
XM_011545946.1:c.3301_3311del	XP_011544248.1:p.Thr1101ArgfsTer20
XM_011545947.1:c.3208-4250_3208-4240del	XP_011544249.1:n.3208-4250_3208-4240del
XM_011545948.1:c.2410_2420del	XP_011544250.1:p.Thr804ArgfsTer20
XR_950851.1:n.4003_4013del
XM_011545946.2:c.3301_3311del	XP_011544248.1:p.Thr1101ArgfsTer20
XM_011545947.2:c.3208-4250_3208-4240del	XP_011544249.1:n.3208-4250_3208-4240del
XM_011545948.2:c.2410_2420del	XP_011544250.1:p.Thr804ArgfsTer20
XM_017023671.1:c.3120-4250_3120-4240del	XP_016879160.1:n.3120-4250_3120-4240del
XM_017023672.2:c.3114-4250_3114-4240del	XP_016879161.1:n.3114-4250_3114-4240del
XM_017023673.2:c.3202-4250_3202-4240del	XP_016879162.1:n.3202-4250_3202-4240del
NM_024675.4:c.3295_3305del MANE Select	NP_078951.2:p.Thr1099ArgfsTer20