Canonical Allele Identifier: CA658658404

Gene: PALB2

Linked Data

• ClinVar Variation Id: 487407
• ClinVar RCV Id: RCV000576469 ; RCV000657317
• dbSNP Id: rs1555460325
• MyVariant Identifiers: chr16:g.23641012_23641019del (hg19) ; chr16:g.23629691_23629698del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23629691_23629698del , CM000678.2:g.23629691_23629698del	GRCh38
NC_000016.9:g.23641012_23641019del , CM000678.1:g.23641012_23641019del	GRCh37
NC_000016.8:g.23548513_23548520del	NCBI36
NG_007406.1:g.16660_16667del , LRG_308:g.16660_16667del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.2462_2469del	ENSP00000460666.3:p.Lys821ThrfsTer4
ENST00000565038.2:c.212-423_212-416del	ENSP00000459882.2:n.212-423_212-416del
ENST00000566069.6:c.2456_2463del	ENSP00000459237.2:p.Lys819ThrfsTer4
ENST00000697377.2:c.2462_2469del	ENSP00000513286.2:p.Lys821ThrfsTer4
ENST00000697379.2:c.2462_2469del	ENSP00000513287.2:p.Lys821ThrfsTer4
ENST00000561514.2:c.1571_1578del	ENSP00000460666.2:p.Lys524ThrfsTer4
ENST00000697374.1:c.1571_1578del	ENSP00000513284.1:p.Lys524ThrfsTer4
ENST00000697375.1:n.3803_3810del
ENST00000697376.1:c.1571_1578del	ENSP00000513285.1:p.Lys524ThrfsTer4
ENST00000697377.1:c.1571_1578del	ENSP00000513286.1:p.Lys524ThrfsTer4
ENST00000697378.1:n.2976_2983del
ENST00000697379.1:c.1571_1578del	ENSP00000513287.1:p.Lys524ThrfsTer4
ENST00000697380.1:n.1384_1391del
ENST00000697381.1:n.1151_1158del
ENST00000697382.1:c.1571_1578del	ENSP00000513288.1:p.Lys524ThrfsTer4
ENST00000697383.1:c.49-423_49-416del	ENSP00000513289.1:n.49-423_49-416del
ENST00000697384.1:n.2610_2617del
ENST00000261584.9:c.2456_2463del MANE Select	ENSP00000261584.4:p.Lys819ThrfsTer4
ENST00000261584.8:c.2456_2463del	ENSP00000261584.4:p.Lys819ThrfsTer4
ENST00000565038.1:c.87-423_87-416del
ENST00000568219.5:c.1571_1578del	ENSP00000454703.2:p.Lys524ThrfsTer4
NM_024675.3:c.2456_2463del , LRG_308t1:c.2456_2463del	NP_078951.2:p.Lys819ThrfsTer4
XM_011545946.1:c.2462_2469del	XP_011544248.1:p.Lys821ThrfsTer4
XM_011545947.1:c.2462_2469del	XP_011544249.1:p.Lys821ThrfsTer4
XM_011545948.1:c.1571_1578del	XP_011544250.1:p.Lys524ThrfsTer4
XR_950851.1:n.3252_3259del
XM_011545946.2:c.2462_2469del	XP_011544248.1:p.Lys821ThrfsTer4
XM_011545947.2:c.2462_2469del	XP_011544249.1:p.Lys821ThrfsTer4
XM_011545948.2:c.1571_1578del	XP_011544250.1:p.Lys524ThrfsTer4
XM_017023671.1:c.2462_2469del	XP_016879160.1:p.Lys821ThrfsTer4
XM_017023672.2:c.2456_2463del	XP_016879161.1:p.Lys819ThrfsTer4
XM_017023673.2:c.2456_2463del	XP_016879162.1:p.Lys819ThrfsTer4
NM_024675.4:c.2456_2463del MANE Select	NP_078951.2:p.Lys819ThrfsTer4