Canonical Allele Identifier: CA395138197

Gene: PALB2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603595A>T , CM000678.2:g.23603595A>T	GRCh38
NC_000016.9:g.23614916A>T , CM000678.1:g.23614916A>T	GRCh37
NC_000016.8:g.23522417A>T	NCBI36
NG_007406.1:g.42763T>A , LRG_308:g.42763T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024675.4:c.3425T>A MANE Select	NP_078951.2:p.Leu1142Ter
ENST00000261584.9:c.3425T>A MANE Select	ENSP00000261584.4:p.Leu1142Ter
NM_024675.3:c.3425T>A , LRG_308t1:c.3425T>A	NP_078951.2:p.Leu1142Ter
ENST00000261584.8:c.3425T>A	ENSP00000261584.4:p.Leu1142Ter
ENST00000561514.2:c.2540T>A	ENSP00000460666.2:p.Leu847Ter
ENST00000561514.3:c.3431T>A	ENSP00000460666.3:p.Leu1144Ter
ENST00000565038.2:c.*910T>A	ENSP00000459882.2:n.*910T>A
ENST00000566069.5:c.191T>A
ENST00000566069.6:c.*60T>A	ENSP00000459237.2:n.*60T>A
ENST00000568219.5:c.2540T>A	ENSP00000454703.2:p.Leu847Ter
ENST00000697374.1:c.2540T>A	ENSP00000513284.1:p.Leu847Ter
ENST00000697375.1:n.4772T>A
ENST00000697376.1:c.*60T>A	ENSP00000513285.1:n.*60T>A
ENST00000697377.1:c.2378T>A	ENSP00000513286.1:p.Leu793Ter
ENST00000697377.2:c.3269T>A	ENSP00000513286.2:p.Leu1090Ter
ENST00000697378.1:n.3945T>A
ENST00000697379.1:c.2540T>A	ENSP00000513287.1:p.Leu847Ter
ENST00000697379.2:c.3431T>A	ENSP00000513287.2:p.Leu1144Ter
ENST00000697380.1:n.2629T>A
ENST00000697381.1:n.2120T>A
ENST00000697382.1:c.*202T>A	ENSP00000513288.1:n.*202T>A
ENST00000697383.1:c.959T>A	ENSP00000513289.1:p.Leu320Ter
XM_011545946.1:c.3431T>A	XP_011544248.1:p.Leu1144Ter
XM_011545946.2:c.3431T>A	XP_011544248.1:p.Leu1144Ter
XM_011545947.1:c.*60T>A	XP_011544249.1:n.*60T>A
XM_011545947.2:c.*60T>A	XP_011544249.1:n.*60T>A
XM_011545948.1:c.2540T>A	XP_011544250.1:p.Leu847Ter
XM_011545948.2:c.2540T>A	XP_011544250.1:p.Leu847Ter
XM_017023671.1:c.3194T>A	XP_016879160.1:p.Leu1065Ter
XM_017023672.2:c.3188T>A	XP_016879161.1:p.Leu1063Ter
XM_017023673.2:c.*60T>A	XP_016879162.1:n.*60T>A
XR_950851.1:n.4133T>A