Canonical Allele Identifier: CA2580091249

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1731521
• ClinVar RCV Id: RCV002457173

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603570_23603572delinsAA , CM000678.2:g.23603570_23603572delinsAA	GRCh38
NC_000016.9:g.23614891_23614893delinsAA , CM000678.1:g.23614891_23614893delinsAA	GRCh37
NC_000016.8:g.23522392_23522394delinsAA	NCBI36
NG_007406.1:g.42786_42788delinsTT , LRG_308:g.42786_42788delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3454_3456delinsTT	ENSP00000460666.3:p.Leu1152PhefsTer13
ENST00000565038.2:c.*933_*935delinsTT	ENSP00000459882.2:n.*933_*935delinsTT
ENST00000566069.6:c.*83_*85delinsTT	ENSP00000459237.2:n.*83_*85delinsTT
ENST00000697377.2:c.3292_3294delinsTT	ENSP00000513286.2:p.Leu1098PhefsTer13
ENST00000697379.2:c.3454_3456delinsTT	ENSP00000513287.2:p.Leu1152PhefsTer13
ENST00000561514.2:c.2563_2565delinsTT	ENSP00000460666.2:p.Leu855PhefsTer13
ENST00000697374.1:c.2563_2565delinsTT	ENSP00000513284.1:p.Leu855PhefsTer13
ENST00000697375.1:n.4795_4797delinsTT
ENST00000697376.1:c.*83_*85delinsTT	ENSP00000513285.1:n.*83_*85delinsTT
ENST00000697377.1:c.2401_2403delinsTT	ENSP00000513286.1:p.Leu801PhefsTer13
ENST00000697378.1:n.3968_3970delinsTT
ENST00000697379.1:c.2563_2565delinsTT	ENSP00000513287.1:p.Leu855PhefsTer13
ENST00000697380.1:n.2652_2654delinsTT
ENST00000697381.1:n.2143_2145delinsTT
ENST00000697382.1:c.*225_*227delinsTT	ENSP00000513288.1:n.*225_*227delinsTT
ENST00000697383.1:c.982_984delinsTT	ENSP00000513289.1:p.Leu328PhefsTer13
ENST00000261584.9:c.3448_3450delinsTT MANE Select	ENSP00000261584.4:p.Leu1150PhefsTer13
ENST00000261584.8:c.3448_3450delinsTT	ENSP00000261584.4:p.Leu1150PhefsTer13
ENST00000566069.5:c.214_216delinsTT
ENST00000568219.5:c.2563_2565delinsTT	ENSP00000454703.2:p.Leu855PhefsTer13
NM_024675.3:c.3448_3450delinsTT , LRG_308t1:c.3448_3450delinsTT	NP_078951.2:p.Leu1150PhefsTer13
XM_011545946.1:c.3454_3456delinsTT	XP_011544248.1:p.Leu1152PhefsTer13
XM_011545947.1:c.*83_*85delinsTT	XP_011544249.1:n.*83_*85delinsTT
XM_011545948.1:c.2563_2565delinsTT	XP_011544250.1:p.Leu855PhefsTer13
XR_950851.1:n.4156_4158delinsTT
XM_011545946.2:c.3454_3456delinsTT	XP_011544248.1:p.Leu1152PhefsTer13
XM_011545947.2:c.*83_*85delinsTT	XP_011544249.1:n.*83_*85delinsTT
XM_011545948.2:c.2563_2565delinsTT	XP_011544250.1:p.Leu855PhefsTer13
XM_017023671.1:c.3217_3219delinsTT	XP_016879160.1:p.Leu1073PhefsTer13
XM_017023672.2:c.3211_3213delinsTT	XP_016879161.1:p.Leu1071PhefsTer13
XM_017023673.2:c.*83_*85delinsTT	XP_016879162.1:n.*83_*85delinsTT
NM_024675.4:c.3448_3450delinsTT MANE Select	NP_078951.2:p.Leu1150PhefsTer13