Canonical Allele Identifier: CA2731886876

Gene: PALB2

Linked Data

• dbSNP Id: rs886039503

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23607973_23607974dup , CM000678.2:g.23607973_23607974dup	GRCh38
NC_000016.9:g.23619294_23619295dup , CM000678.1:g.23619294_23619295dup	GRCh37
NC_000016.8:g.23526795_23526796dup	NCBI36
NG_007406.1:g.38388_38389dup , LRG_308:g.38388_38389dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3250_3251dup	ENSP00000460666.3:p.Ser1084ArgfsTer14
ENST00000565038.2:c.*725_*726dup	ENSP00000459882.2:n.*725_*726dup
ENST00000566069.6:c.3202-4301_3202-4300dup	ENSP00000459237.2:n.3202-4301_3202-4300dup
ENST00000697377.2:c.3088_3089dup	ENSP00000513286.2:p.Ser1030ArgfsTer14
ENST00000697379.2:c.3250_3251dup	ENSP00000513287.2:p.Ser1084ArgfsTer14
ENST00000561514.2:c.2359_2360dup	ENSP00000460666.2:p.Ser787ArgfsTer14
ENST00000697374.1:c.2359_2360dup	ENSP00000513284.1:p.Ser787ArgfsTer14
ENST00000697375.1:n.4591_4592dup
ENST00000697376.1:c.2317-4301_2317-4300dup	ENSP00000513285.1:n.2317-4301_2317-4300dup
ENST00000697377.1:c.2197_2198dup	ENSP00000513286.1:p.Ser733ArgfsTer14
ENST00000697378.1:n.3764_3765dup
ENST00000697379.1:c.2359_2360dup	ENSP00000513287.1:p.Ser787ArgfsTer14
ENST00000697380.1:n.2448_2449dup
ENST00000697381.1:n.1939_1940dup
ENST00000697382.1:c.*21_*22dup	ENSP00000513288.1:n.*21_*22dup
ENST00000697383.1:c.778_779dup	ENSP00000513289.1:p.Ser260ArgfsTer14
ENST00000261584.9:c.3244_3245dup MANE Select	ENSP00000261584.4:p.Ser1082ArgfsTer14
ENST00000261584.8:c.3244_3245dup	ENSP00000261584.4:p.Ser1082ArgfsTer14
ENST00000566069.5:c.117-4301_117-4300dup
ENST00000568219.5:c.2359_2360dup	ENSP00000454703.2:p.Ser787ArgfsTer14
NM_024675.3:c.3244_3245dup , LRG_308t1:c.3244_3245dup	NP_078951.2:p.Ser1082ArgfsTer14
XM_011545946.1:c.3250_3251dup	XP_011544248.1:p.Ser1084ArgfsTer14
XM_011545947.1:c.3208-4301_3208-4300dup	XP_011544249.1:n.3208-4301_3208-4300dup
XM_011545948.1:c.2359_2360dup	XP_011544250.1:p.Ser787ArgfsTer14
XR_950851.1:n.3952_3953dup
XM_011545946.2:c.3250_3251dup	XP_011544248.1:p.Ser1084ArgfsTer14
XM_011545947.2:c.3208-4301_3208-4300dup	XP_011544249.1:n.3208-4301_3208-4300dup
XM_011545948.2:c.2359_2360dup	XP_011544250.1:p.Ser787ArgfsTer14
XM_017023671.1:c.3120-4301_3120-4300dup	XP_016879160.1:n.3120-4301_3120-4300dup
XM_017023672.2:c.3114-4301_3114-4300dup	XP_016879161.1:n.3114-4301_3114-4300dup
XM_017023673.2:c.3202-4301_3202-4300dup	XP_016879162.1:n.3202-4301_3202-4300dup
NM_024675.4:c.3244_3245dup MANE Select	NP_078951.2:p.Ser1082ArgfsTer14