Canonical Allele Identifier: CA2213424012

Gene: PALB2

Linked Data

• dbSNP Id: rs1966862962

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23630206_23630211del , CM000678.2:g.23630206_23630211del	GRCh38
NC_000016.9:g.23641527_23641532del , CM000678.1:g.23641527_23641532del	GRCh37
NC_000016.8:g.23549028_23549033del	NCBI36
NG_007406.1:g.16147_16152del , LRG_308:g.16147_16152del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.1949_1954del	ENSP00000460666.3:p.Leu650_Glu652delinsGln
ENST00000565038.2:c.212-936_212-931del	ENSP00000459882.2:n.212-936_212-931del
ENST00000566069.6:c.1943_1948del	ENSP00000459237.2:p.Leu648_Glu650delinsGln
ENST00000697377.2:c.1949_1954del	ENSP00000513286.2:p.Leu650_Glu652delinsGln
ENST00000697379.2:c.1949_1954del	ENSP00000513287.2:p.Leu650_Glu652delinsGln
ENST00000561514.2:c.1058_1063del	ENSP00000460666.2:p.Leu353_Glu355delinsGln
ENST00000697374.1:c.1058_1063del	ENSP00000513284.1:p.Leu353_Glu355delinsGln
ENST00000697375.1:n.3290_3295del
ENST00000697376.1:c.1058_1063del	ENSP00000513285.1:p.Leu353_Glu355delinsGln
ENST00000697377.1:c.1058_1063del	ENSP00000513286.1:p.Leu353_Glu355delinsGln
ENST00000697378.1:n.2463_2468del
ENST00000697379.1:c.1058_1063del	ENSP00000513287.1:p.Leu353_Glu355delinsGln
ENST00000697380.1:n.871_876del
ENST00000697381.1:n.638_643del
ENST00000697382.1:c.1058_1063del	ENSP00000513288.1:p.Leu353_Glu355delinsGln
ENST00000697383.1:c.49-936_49-931del	ENSP00000513289.1:n.49-936_49-931del
ENST00000697384.1:n.2097_2102del
ENST00000261584.9:c.1943_1948del MANE Select	ENSP00000261584.4:p.Leu648_Glu650delinsGln
ENST00000261584.8:c.1943_1948del	ENSP00000261584.4:p.Leu648_Glu650delinsGln
ENST00000565038.1:c.87-936_87-931del
ENST00000568219.5:c.1058_1063del	ENSP00000454703.2:p.Leu353_Glu355delinsGln
NM_024675.3:c.1943_1948del , LRG_308t1:c.1943_1948del	NP_078951.2:p.Leu648_Glu650delinsGln
XM_011545946.1:c.1949_1954del	XP_011544248.1:p.Leu650_Glu652delinsGln
XM_011545947.1:c.1949_1954del	XP_011544249.1:p.Leu650_Glu652delinsGln
XM_011545948.1:c.1058_1063del	XP_011544250.1:p.Leu353_Glu355delinsGln
XR_950851.1:n.2739_2744del
XM_011545946.2:c.1949_1954del	XP_011544248.1:p.Leu650_Glu652delinsGln
XM_011545947.2:c.1949_1954del	XP_011544249.1:p.Leu650_Glu652delinsGln
XM_011545948.2:c.1058_1063del	XP_011544250.1:p.Leu353_Glu355delinsGln
XM_017023671.1:c.1949_1954del	XP_016879160.1:p.Leu650_Glu652delinsGln
XM_017023672.2:c.1943_1948del	XP_016879161.1:p.Leu648_Glu650delinsGln
XM_017023673.2:c.1943_1948del	XP_016879162.1:p.Leu648_Glu650delinsGln
NM_024675.4:c.1943_1948del MANE Select	NP_078951.2:p.Leu648_Glu650delinsGln