Canonical Allele Identifier: CA2831039421

Gene: PALB2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635956_23635978dup , CM000678.2:g.23635956_23635978dup	GRCh38
NC_000016.9:g.23647277_23647299dup , CM000678.1:g.23647277_23647299dup	GRCh37
NC_000016.8:g.23554778_23554800dup	NCBI36
NG_007406.1:g.10385_10407dup , LRG_308:g.10385_10407dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.579_601dup	ENSP00000460666.3:p.Leu201GlnfsTer2
ENST00000565038.2:c.211+1877_211+1899dup	ENSP00000459882.2:n.211+1877_211+1899dup
ENST00000566069.6:c.573_595dup	ENSP00000459237.2:p.Leu199GlnfsTer2
ENST00000697377.2:c.579_601dup	ENSP00000513286.2:p.Leu201GlnfsTer2
ENST00000697379.2:c.579_601dup	ENSP00000513287.2:p.Leu201GlnfsTer2
ENST00000561514.2:c.-313_-291dup	ENSP00000460666.2:n.-313_-291dup
ENST00000697374.1:c.-313_-291dup	ENSP00000513284.1:n.-313_-291dup
ENST00000697375.1:n.1920_1942dup
ENST00000697376.1:c.-313_-291dup	ENSP00000513285.1:n.-313_-291dup
ENST00000697377.1:c.-313_-291dup	ENSP00000513286.1:n.-313_-291dup
ENST00000697378.1:n.1093_1115dup
ENST00000697379.1:c.-313_-291dup	ENSP00000513287.1:n.-313_-291dup
ENST00000697382.1:c.-313_-291dup	ENSP00000513288.1:n.-313_-291dup
ENST00000697383.1:c.48+5137_48+5159dup	ENSP00000513289.1:n.48+5137_48+5159dup
ENST00000697384.1:n.727_749dup
ENST00000261584.9:c.573_595dup MANE Select	ENSP00000261584.4:p.Leu199GlnfsTer2
ENST00000261584.8:c.573_595dup	ENSP00000261584.4:p.Leu199GlnfsTer2
ENST00000565038.1:c.86+1877_86+1899dup
ENST00000568219.5:c.-313_-291dup	ENSP00000454703.2:n.-313_-291dup
NM_024675.3:c.573_595dup , LRG_308t1:c.573_595dup	NP_078951.2:p.Leu199GlnfsTer2
XM_011545946.1:c.579_601dup	XP_011544248.1:p.Leu201GlnfsTer2
XM_011545947.1:c.579_601dup	XP_011544249.1:p.Leu201GlnfsTer2
XM_011545948.1:c.-313_-291dup	XP_011544250.1:n.-313_-291dup
XR_950851.1:n.1369_1391dup
XM_011545946.2:c.579_601dup	XP_011544248.1:p.Leu201GlnfsTer2
XM_011545947.2:c.579_601dup	XP_011544249.1:p.Leu201GlnfsTer2
XM_011545948.2:c.-313_-291dup	XP_011544250.1:n.-313_-291dup
XM_017023671.1:c.579_601dup	XP_016879160.1:p.Leu201GlnfsTer2
XM_017023672.2:c.573_595dup	XP_016879161.1:p.Leu199GlnfsTer2
XM_017023673.2:c.573_595dup	XP_016879162.1:p.Leu199GlnfsTer2
NM_024675.4:c.573_595dup MANE Select	NP_078951.2:p.Leu199GlnfsTer2