Canonical Allele Identifier: CA294564

Gene: PALB2

Linked Data

• ClinVar Variation Id: 143975
• ClinVar RCV Id: RCV000133489 ; RCV001030420
• dbSNP Id: rs587776427
• MyVariant Identifiers: chr16:g.23614843_23614844del (hg19) ; chr16:g.23603522_23603523del (hg38)
• PubMed: PMID:25099575

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603522_23603523del , CM000678.2:g.23603522_23603523del	GRCh38
NC_000016.9:g.23614843_23614844del , CM000678.1:g.23614843_23614844del	GRCh37
NC_000016.8:g.23522344_23522345del	NCBI36
NG_007406.1:g.42835_42836del , LRG_308:g.42835_42836del

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3503_3504del	ENSP00000460666.3:p.Gly1168AspfsTer23
ENST00000565038.2:c.*982_*983del	ENSP00000459882.2:n.*982_*983del
ENST00000566069.6:c.*132_*133del	ENSP00000459237.2:n.*132_*133del
ENST00000697377.2:c.3341_3342del	ENSP00000513286.2:p.Gly1114AspfsTer23
ENST00000697379.2:c.3503_3504del	ENSP00000513287.2:p.Gly1168AspfsTer23
ENST00000561514.2:c.2612_2613del	ENSP00000460666.2:p.Gly871AspfsTer23
ENST00000697374.1:c.2612_2613del	ENSP00000513284.1:p.Gly871AspfsTer23
ENST00000697375.1:n.4844_4845del
ENST00000697376.1:c.*132_*133del	ENSP00000513285.1:n.*132_*133del
ENST00000697377.1:c.2450_2451del	ENSP00000513286.1:p.Gly817AspfsTer23
ENST00000697378.1:n.4017_4018del
ENST00000697379.1:c.2612_2613del	ENSP00000513287.1:p.Gly871AspfsTer23
ENST00000697380.1:n.2701_2702del
ENST00000697381.1:n.2192_2193del
ENST00000697382.1:c.*274_*275del	ENSP00000513288.1:n.*274_*275del
ENST00000697383.1:c.1031_1032del	ENSP00000513289.1:p.Gly344AspfsTer23
ENST00000261584.9:c.3497_3498del MANE Select	ENSP00000261584.4:p.Gly1166AspfsTer23
ENST00000261584.8:c.3497_3498del	ENSP00000261584.4:p.Gly1166AspfsTer23
ENST00000566069.5:c.263_264del
ENST00000568219.5:c.2612_2613del	ENSP00000454703.2:p.Gly871AspfsTer23
NM_024675.3:c.3497_3498del , LRG_308t1:c.3497_3498del	NP_078951.2:p.Gly1166AspfsTer23
XM_011545946.1:c.3503_3504del	XP_011544248.1:p.Gly1168AspfsTer23
XM_011545947.1:c.*132_*133del	XP_011544249.1:n.*132_*133del
XM_011545948.1:c.2612_2613del	XP_011544250.1:p.Gly871AspfsTer23
XR_950851.1:n.4205_4206del
XM_011545946.2:c.3503_3504del	XP_011544248.1:p.Gly1168AspfsTer23
XM_011545947.2:c.*132_*133del	XP_011544249.1:n.*132_*133del
XM_011545948.2:c.2612_2613del	XP_011544250.1:p.Gly871AspfsTer23
XM_017023671.1:c.3266_3267del	XP_016879160.1:p.Gly1089AspfsTer23
XM_017023672.2:c.3260_3261del	XP_016879161.1:p.Gly1087AspfsTer23
XM_017023673.2:c.*132_*133del	XP_016879162.1:n.*132_*133del
NM_024675.4:c.3497_3498del MANE Select	NP_078951.2:p.Gly1166AspfsTer23