Canonical Allele Identifier: CA395139942

Gene: PALB2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23607976T>A , CM000678.2:g.23607976T>A	GRCh38
NC_000016.9:g.23619297T>A , CM000678.1:g.23619297T>A	GRCh37
NC_000016.8:g.23526798T>A	NCBI36
NG_007406.1:g.38382A>T , LRG_308:g.38382A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024675.4:c.3238A>T MANE Select	NP_078951.2:p.Lys1080Ter
ENST00000261584.9:c.3238A>T MANE Select	ENSP00000261584.4:p.Lys1080Ter
NM_024675.3:c.3238A>T , LRG_308t1:c.3238A>T	NP_078951.2:p.Lys1080Ter
ENST00000261584.8:c.3238A>T	ENSP00000261584.4:p.Lys1080Ter
ENST00000561514.2:c.2353A>T	ENSP00000460666.2:p.Lys785Ter
ENST00000561514.3:c.3244A>T	ENSP00000460666.3:p.Lys1082Ter
ENST00000565038.2:c.*719A>T	ENSP00000459882.2:n.*719A>T
ENST00000566069.5:c.117-4307A>T
ENST00000566069.6:c.3202-4307A>T	ENSP00000459237.2:n.3202-4307A>T
ENST00000568219.5:c.2353A>T	ENSP00000454703.2:p.Lys785Ter
ENST00000697374.1:c.2353A>T	ENSP00000513284.1:p.Lys785Ter
ENST00000697375.1:n.4585A>T
ENST00000697376.1:c.2317-4307A>T	ENSP00000513285.1:n.2317-4307A>T
ENST00000697377.1:c.2191A>T	ENSP00000513286.1:p.Lys731Ter
ENST00000697377.2:c.3082A>T	ENSP00000513286.2:p.Lys1028Ter
ENST00000697378.1:n.3758A>T
ENST00000697379.1:c.2353A>T	ENSP00000513287.1:p.Lys785Ter
ENST00000697379.2:c.3244A>T	ENSP00000513287.2:p.Lys1082Ter
ENST00000697380.1:n.2442A>T
ENST00000697381.1:n.1933A>T
ENST00000697382.1:c.*15A>T	ENSP00000513288.1:n.*15A>T
ENST00000697383.1:c.772A>T	ENSP00000513289.1:p.Lys258Ter
XM_011545946.1:c.3244A>T	XP_011544248.1:p.Lys1082Ter
XM_011545946.2:c.3244A>T	XP_011544248.1:p.Lys1082Ter
XM_011545947.1:c.3208-4307A>T	XP_011544249.1:n.3208-4307A>T
XM_011545947.2:c.3208-4307A>T	XP_011544249.1:n.3208-4307A>T
XM_011545948.1:c.2353A>T	XP_011544250.1:p.Lys785Ter
XM_011545948.2:c.2353A>T	XP_011544250.1:p.Lys785Ter
XM_017023671.1:c.3120-4307A>T	XP_016879160.1:n.3120-4307A>T
XM_017023672.2:c.3114-4307A>T	XP_016879161.1:n.3114-4307A>T
XM_017023673.2:c.3202-4307A>T	XP_016879162.1:n.3202-4307A>T
XR_950851.1:n.3946A>T