Canonical Allele Identifier: CA1139664596

Gene: PALB2

Linked Data

• ClinVar Variation Id: 918586
• ClinVar RCV Id: RCV001176247
• dbSNP Id: rs1966861886

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23630137_23630138insA , CM000678.2:g.23630137_23630138insA	GRCh38
NC_000016.9:g.23641458_23641459insA , CM000678.1:g.23641458_23641459insA	GRCh37
NC_000016.8:g.23548959_23548960insA	NCBI36
NG_007406.1:g.16220_16221insT , LRG_308:g.16220_16221insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.2022_2023insT	ENSP00000460666.3:p.Glu675Ter
ENST00000565038.2:c.212-863_212-862insT	ENSP00000459882.2:n.212-863_212-862insT
ENST00000566069.6:c.2016_2017insT	ENSP00000459237.2:p.Glu673Ter
ENST00000697377.2:c.2022_2023insT	ENSP00000513286.2:p.Glu675Ter
ENST00000697379.2:c.2022_2023insT	ENSP00000513287.2:p.Glu675Ter
ENST00000561514.2:c.1131_1132insT	ENSP00000460666.2:p.Glu378Ter
ENST00000697374.1:c.1131_1132insT	ENSP00000513284.1:p.Glu378Ter
ENST00000697375.1:n.3363_3364insT
ENST00000697376.1:c.1131_1132insT	ENSP00000513285.1:p.Glu378Ter
ENST00000697377.1:c.1131_1132insT	ENSP00000513286.1:p.Glu378Ter
ENST00000697378.1:n.2536_2537insT
ENST00000697379.1:c.1131_1132insT	ENSP00000513287.1:p.Glu378Ter
ENST00000697380.1:n.944_945insT
ENST00000697381.1:n.711_712insT
ENST00000697382.1:c.1131_1132insT	ENSP00000513288.1:p.Glu378Ter
ENST00000697383.1:c.49-863_49-862insT	ENSP00000513289.1:n.49-863_49-862insT
ENST00000697384.1:n.2170_2171insT
ENST00000261584.9:c.2016_2017insT MANE Select	ENSP00000261584.4:p.Glu673Ter
ENST00000261584.8:c.2016_2017insT	ENSP00000261584.4:p.Glu673Ter
ENST00000565038.1:c.87-863_87-862insT
ENST00000568219.5:c.1131_1132insT	ENSP00000454703.2:p.Glu378Ter
NM_024675.3:c.2016_2017insT , LRG_308t1:c.2016_2017insT	NP_078951.2:p.Glu673Ter
XM_011545946.1:c.2022_2023insT	XP_011544248.1:p.Glu675Ter
XM_011545947.1:c.2022_2023insT	XP_011544249.1:p.Glu675Ter
XM_011545948.1:c.1131_1132insT	XP_011544250.1:p.Glu378Ter
XR_950851.1:n.2812_2813insT
XM_011545946.2:c.2022_2023insT	XP_011544248.1:p.Glu675Ter
XM_011545947.2:c.2022_2023insT	XP_011544249.1:p.Glu675Ter
XM_011545948.2:c.1131_1132insT	XP_011544250.1:p.Glu378Ter
XM_017023671.1:c.2022_2023insT	XP_016879160.1:p.Glu675Ter
XM_017023672.2:c.2016_2017insT	XP_016879161.1:p.Glu673Ter
XM_017023673.2:c.2016_2017insT	XP_016879162.1:p.Glu673Ter
NM_024675.4:c.2016_2017insT MANE Select	NP_078951.2:p.Glu673Ter