Canonical Allele Identifier: CA288447

Gene: PALB2

Linked Data

• ClinVar Variation Id: 128131
• ClinVar RCV Id: RCV000116085 ; RCV000497296 ; RCV003474718
• dbSNP Id: rs587780211
• MyVariant Identifiers: chr16:g.23641079_23641085del (hg19) ; chr16:g.23629758_23629764del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23629760_23629766del , CM000678.2:g.23629760_23629766del	GRCh38
NC_000016.9:g.23641081_23641087del , CM000678.1:g.23641081_23641087del	GRCh37
NC_000016.8:g.23548582_23548588del	NCBI36
NG_007406.1:g.16594_16600del , LRG_308:g.16594_16600del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.2396_2402del	ENSP00000460666.3:p.Gln799ProfsTer?
ENST00000565038.2:c.212-489_212-483del	ENSP00000459882.2:n.212-489_212-483del
ENST00000566069.6:c.2390_2396del	ENSP00000459237.2:p.Gln797ProfsTer?
ENST00000697377.2:c.2396_2402del	ENSP00000513286.2:p.Gln799ProfsTer?
ENST00000697379.2:c.2396_2402del	ENSP00000513287.2:p.Gln799ProfsTer?
ENST00000561514.2:c.1505_1511del	ENSP00000460666.2:p.Gln502ProfsTer?
ENST00000697374.1:c.1505_1511del	ENSP00000513284.1:p.Gln502ProfsTer?
ENST00000697375.1:n.3737_3743del
ENST00000697376.1:c.1505_1511del	ENSP00000513285.1:p.Gln502ProfsTer?
ENST00000697377.1:c.1505_1511del	ENSP00000513286.1:p.Gln502ProfsTer?
ENST00000697378.1:n.2910_2916del
ENST00000697379.1:c.1505_1511del	ENSP00000513287.1:p.Gln502ProfsTer?
ENST00000697380.1:n.1318_1324del
ENST00000697381.1:n.1085_1091del
ENST00000697382.1:c.1505_1511del	ENSP00000513288.1:p.Gln502ProfsTer?
ENST00000697383.1:c.49-489_49-483del	ENSP00000513289.1:n.49-489_49-483del
ENST00000697384.1:n.2544_2550del
ENST00000261584.9:c.2390_2396del MANE Select	ENSP00000261584.4:p.Gln797ProfsTer?
ENST00000261584.8:c.2390_2396del	ENSP00000261584.4:p.Gln797ProfsTer?
ENST00000565038.1:c.87-489_87-483del
ENST00000568219.5:c.1505_1511del	ENSP00000454703.2:p.Gln502ProfsTer?
NM_024675.3:c.2390_2396del , LRG_308t1:c.2390_2396del	NP_078951.2:p.Gln797ProfsTer?
XM_011545946.1:c.2396_2402del	XP_011544248.1:p.Gln799ProfsTer?
XM_011545947.1:c.2396_2402del	XP_011544249.1:p.Gln799ProfsTer?
XM_011545948.1:c.1505_1511del	XP_011544250.1:p.Gln502ProfsTer?
XR_950851.1:n.3186_3192del
XM_011545946.2:c.2396_2402del	XP_011544248.1:p.Gln799ProfsTer?
XM_011545947.2:c.2396_2402del	XP_011544249.1:p.Gln799ProfsTer?
XM_011545948.2:c.1505_1511del	XP_011544250.1:p.Gln502ProfsTer?
XM_017023671.1:c.2396_2402del	XP_016879160.1:p.Gln799ProfsTer?
XM_017023672.2:c.2390_2396del	XP_016879161.1:p.Gln797ProfsTer?
XM_017023673.2:c.2390_2396del	XP_016879162.1:p.Gln797ProfsTer?
NM_024675.4:c.2390_2396del MANE Select	NP_078951.2:p.Gln797ProfsTer?