Canonical Allele Identifier: CA621661705

Gene: PALB2

Linked Data

• ClinVar Variation Id: 2674113
• ClinVar RCV Id: RCV003452309
• dbSNP Id: rs1567206799
• gnomAD v2: 16-23619229-G-GCTGAGAGT
• gnomAD v4: 16-23607908-G-GCTGAGAGT
• MyVariant Identifiers: chr16:g.23619229_23619230insCTGAGAGT (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23607910_23607917dup , CM000678.2:g.23607910_23607917dup	GRCh38
NC_000016.9:g.23619231_23619238dup , CM000678.1:g.23619231_23619238dup	GRCh37
NC_000016.8:g.23526732_23526739dup	NCBI36
NG_007406.1:g.38442_38449dup , LRG_308:g.38442_38449dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3304_3311dup	ENSP00000460666.3:p.Ser1104ArgfsTer7
ENST00000565038.2:c.*779_*786dup	ENSP00000459882.2:n.*779_*786dup
ENST00000566069.6:c.3202-4247_3202-4240dup	ENSP00000459237.2:n.3202-4247_3202-4240du...
ENST00000697377.2:c.3142_3149dup	ENSP00000513286.2:p.Ser1050ArgfsTer7
ENST00000697379.2:c.3304_3311dup	ENSP00000513287.2:p.Ser1104ArgfsTer7
ENST00000561514.2:c.2413_2420dup	ENSP00000460666.2:p.Ser807ArgfsTer7
ENST00000697374.1:c.2413_2420dup	ENSP00000513284.1:p.Ser807ArgfsTer7
ENST00000697375.1:n.4645_4652dup
ENST00000697376.1:c.2317-4247_2317-4240dup	ENSP00000513285.1:n.2317-4247_2317-4240du...
ENST00000697377.1:c.2251_2258dup	ENSP00000513286.1:p.Ser753ArgfsTer7
ENST00000697378.1:n.3818_3825dup
ENST00000697379.1:c.2413_2420dup	ENSP00000513287.1:p.Ser807ArgfsTer7
ENST00000697380.1:n.2502_2509dup
ENST00000697381.1:n.1993_2000dup
ENST00000697382.1:c.*75_*82dup	ENSP00000513288.1:n.*75_*82dup
ENST00000697383.1:c.832_839dup	ENSP00000513289.1:p.Ser280ArgfsTer7
ENST00000261584.9:c.3298_3305dup MANE Select	ENSP00000261584.4:p.Ser1102ArgfsTer7
ENST00000261584.8:c.3298_3305dup	ENSP00000261584.4:p.Ser1102ArgfsTer7
ENST00000566069.5:c.117-4247_117-4240dup
ENST00000568219.5:c.2413_2420dup	ENSP00000454703.2:p.Ser807ArgfsTer7
NM_024675.3:c.3298_3305dup , LRG_308t1:c.3298_3305dup	NP_078951.2:p.Ser1102ArgfsTer7
XM_011545946.1:c.3304_3311dup	XP_011544248.1:p.Ser1104ArgfsTer7
XM_011545947.1:c.3208-4247_3208-4240dup	XP_011544249.1:n.3208-4247_3208-4240dup
XM_011545948.1:c.2413_2420dup	XP_011544250.1:p.Ser807ArgfsTer7
XR_950851.1:n.4006_4013dup
XM_011545946.2:c.3304_3311dup	XP_011544248.1:p.Ser1104ArgfsTer7
XM_011545947.2:c.3208-4247_3208-4240dup	XP_011544249.1:n.3208-4247_3208-4240dup
XM_011545948.2:c.2413_2420dup	XP_011544250.1:p.Ser807ArgfsTer7
XM_017023671.1:c.3120-4247_3120-4240dup	XP_016879160.1:n.3120-4247_3120-4240dup
XM_017023672.2:c.3114-4247_3114-4240dup	XP_016879161.1:n.3114-4247_3114-4240dup
XM_017023673.2:c.3202-4247_3202-4240dup	XP_016879162.1:n.3202-4247_3202-4240dup
NM_024675.4:c.3298_3305dup MANE Select	NP_078951.2:p.Ser1102ArgfsTer7