Canonical Allele Identifier: CA166575

Gene: PALB2

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603544C>T , CM000678.2:g.23603544C>T	GRCh38
NC_000016.9:g.23614865C>T , CM000678.1:g.23614865C>T	GRCh37
NC_000016.8:g.23522366C>T	NCBI36
NG_007406.1:g.42814G>A , LRG_308:g.42814G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3482G>A	ENSP00000460666.3:p.Trp1161Ter
ENST00000565038.2:c.*961G>A	ENSP00000459882.2:n.*961G>A
ENST00000566069.6:c.*111G>A	ENSP00000459237.2:n.*111G>A
ENST00000697377.2:c.3320G>A	ENSP00000513286.2:p.Trp1107Ter
ENST00000697379.2:c.3482G>A	ENSP00000513287.2:p.Trp1161Ter
ENST00000561514.2:c.2591G>A	ENSP00000460666.2:p.Trp864Ter
ENST00000697374.1:c.2591G>A	ENSP00000513284.1:p.Trp864Ter
ENST00000697375.1:n.4823G>A
ENST00000697376.1:c.*111G>A	ENSP00000513285.1:n.*111G>A
ENST00000697377.1:c.2429G>A	ENSP00000513286.1:p.Trp810Ter
ENST00000697378.1:n.3996G>A
ENST00000697379.1:c.2591G>A	ENSP00000513287.1:p.Trp864Ter
ENST00000697380.1:n.2680G>A
ENST00000697381.1:n.2171G>A
ENST00000697382.1:c.*253G>A	ENSP00000513288.1:n.*253G>A
ENST00000697383.1:c.1010G>A	ENSP00000513289.1:p.Trp337Ter
ENST00000261584.9:c.3476G>A MANE Select	ENSP00000261584.4:p.Trp1159Ter
ENST00000261584.8:c.3476G>A	ENSP00000261584.4:p.Trp1159Ter
ENST00000566069.5:c.242G>A
ENST00000568219.5:c.2591G>A	ENSP00000454703.2:p.Trp864Ter
NM_024675.3:c.3476G>A , LRG_308t1:c.3476G>A	NP_078951.2:p.Trp1159Ter
XM_011545946.1:c.3482G>A	XP_011544248.1:p.Trp1161Ter
XM_011545947.1:c.*111G>A	XP_011544249.1:n.*111G>A
XM_011545948.1:c.2591G>A	XP_011544250.1:p.Trp864Ter
XR_950851.1:n.4184G>A
XM_011545946.2:c.3482G>A	XP_011544248.1:p.Trp1161Ter
XM_011545947.2:c.*111G>A	XP_011544249.1:n.*111G>A
XM_011545948.2:c.2591G>A	XP_011544250.1:p.Trp864Ter
XM_017023671.1:c.3245G>A	XP_016879160.1:p.Trp1082Ter
XM_017023672.2:c.3239G>A	XP_016879161.1:p.Trp1080Ter
XM_017023673.2:c.*111G>A	XP_016879162.1:n.*111G>A
NM_024675.4:c.3476G>A MANE Select	NP_078951.2:p.Trp1159Ter