Canonical Allele Identifier: CA395138362

Gene: PALB2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603655T>A , CM000678.2:g.23603655T>A	GRCh38
NC_000016.9:g.23614976T>A , CM000678.1:g.23614976T>A	GRCh37
NC_000016.8:g.23522477T>A	NCBI36
NG_007406.1:g.42703A>T , LRG_308:g.42703A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3371A>T	ENSP00000460666.3:p.Asp1124Val
ENST00000565038.2:c.*850A>T	ENSP00000459882.2:n.*850A>T
ENST00000566069.6:c.3216A>T	ENSP00000459237.2:p.Ter1072Cys
ENST00000697377.2:c.3209A>T	ENSP00000513286.2:p.Asp1070Val
ENST00000697379.2:c.3371A>T	ENSP00000513287.2:p.Asp1124Val
ENST00000561514.2:c.2480A>T	ENSP00000460666.2:p.Asp827Val
ENST00000697374.1:c.2480A>T	ENSP00000513284.1:p.Asp827Val
ENST00000697375.1:n.4712A>T
ENST00000697376.1:c.2331A>T	ENSP00000513285.1:p.Ter777Cys
ENST00000697377.1:c.2318A>T	ENSP00000513286.1:p.Asp773Val
ENST00000697378.1:n.3885A>T
ENST00000697379.1:c.2480A>T	ENSP00000513287.1:p.Asp827Val
ENST00000697380.1:n.2569A>T
ENST00000697381.1:n.2060A>T
ENST00000697382.1:c.*142A>T	ENSP00000513288.1:n.*142A>T
ENST00000697383.1:c.899A>T	ENSP00000513289.1:p.Asp300Val
ENST00000261584.9:c.3365A>T MANE Select	ENSP00000261584.4:p.Asp1122Val
ENST00000261584.8:c.3365A>T	ENSP00000261584.4:p.Asp1122Val
ENST00000566069.5:c.131A>T
ENST00000568219.5:c.2480A>T	ENSP00000454703.2:p.Asp827Val
NM_024675.3:c.3365A>T , LRG_308t1:c.3365A>T	NP_078951.2:p.Asp1122Val
XM_011545946.1:c.3371A>T	XP_011544248.1:p.Asp1124Val
XM_011545947.1:c.3222A>T	XP_011544249.1:p.Ter1074Cys
XM_011545948.1:c.2480A>T	XP_011544250.1:p.Asp827Val
XR_950851.1:n.4073A>T
XM_011545946.2:c.3371A>T	XP_011544248.1:p.Asp1124Val
XM_011545947.2:c.3222A>T	XP_011544249.1:p.Ter1074Cys
XM_011545948.2:c.2480A>T	XP_011544250.1:p.Asp827Val
XM_017023671.1:c.3134A>T	XP_016879160.1:p.Asp1045Val
XM_017023672.2:c.3128A>T	XP_016879161.1:p.Asp1043Val
XM_017023673.2:c.3216A>T	XP_016879162.1:p.Ter1072Cys
NM_024675.4:c.3365A>T MANE Select	NP_078951.2:p.Asp1122Val