Canonical Allele Identifier: CA395138260

Gene: PALB2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603625A>T , CM000678.2:g.23603625A>T	GRCh38
NC_000016.9:g.23614946A>T , CM000678.1:g.23614946A>T	GRCh37
NC_000016.8:g.23522447A>T	NCBI36
NG_007406.1:g.42733T>A , LRG_308:g.42733T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024675.4:c.3395T>A MANE Select	NP_078951.2:p.Leu1132Ter
ENST00000261584.9:c.3395T>A MANE Select	ENSP00000261584.4:p.Leu1132Ter
NM_024675.3:c.3395T>A , LRG_308t1:c.3395T>A	NP_078951.2:p.Leu1132Ter
ENST00000261584.8:c.3395T>A	ENSP00000261584.4:p.Leu1132Ter
ENST00000561514.2:c.2510T>A	ENSP00000460666.2:p.Leu837Ter
ENST00000561514.3:c.3401T>A	ENSP00000460666.3:p.Leu1134Ter
ENST00000565038.2:c.*880T>A	ENSP00000459882.2:n.*880T>A
ENST00000566069.5:c.161T>A
ENST00000566069.6:c.*30T>A	ENSP00000459237.2:n.*30T>A
ENST00000568219.5:c.2510T>A	ENSP00000454703.2:p.Leu837Ter
ENST00000697374.1:c.2510T>A	ENSP00000513284.1:p.Leu837Ter
ENST00000697375.1:n.4742T>A
ENST00000697376.1:c.*30T>A	ENSP00000513285.1:n.*30T>A
ENST00000697377.1:c.2348T>A	ENSP00000513286.1:p.Leu783Ter
ENST00000697377.2:c.3239T>A	ENSP00000513286.2:p.Leu1080Ter
ENST00000697378.1:n.3915T>A
ENST00000697379.1:c.2510T>A	ENSP00000513287.1:p.Leu837Ter
ENST00000697379.2:c.3401T>A	ENSP00000513287.2:p.Leu1134Ter
ENST00000697380.1:n.2599T>A
ENST00000697381.1:n.2090T>A
ENST00000697382.1:c.*172T>A	ENSP00000513288.1:n.*172T>A
ENST00000697383.1:c.929T>A	ENSP00000513289.1:p.Leu310Ter
XM_011545946.1:c.3401T>A	XP_011544248.1:p.Leu1134Ter
XM_011545946.2:c.3401T>A	XP_011544248.1:p.Leu1134Ter
XM_011545947.1:c.*30T>A	XP_011544249.1:n.*30T>A
XM_011545947.2:c.*30T>A	XP_011544249.1:n.*30T>A
XM_011545948.1:c.2510T>A	XP_011544250.1:p.Leu837Ter
XM_011545948.2:c.2510T>A	XP_011544250.1:p.Leu837Ter
XM_017023671.1:c.3164T>A	XP_016879160.1:p.Leu1055Ter
XM_017023672.2:c.3158T>A	XP_016879161.1:p.Leu1053Ter
XM_017023673.2:c.*30T>A	XP_016879162.1:n.*30T>A
XR_950851.1:n.4103T>A