Canonical Allele Identifier: CA294571

Gene: PALB2

Linked Data

• ClinVar Variation Id: 143979
• ClinVar RCV Id: RCV000133493 ; RCV000822164 ; RCV002371980
• dbSNP Id: rs587776408
• gnomAD v2: 16-23646980-AT-A
• gnomAD v4: 16-23635659-AT-A
• MyVariant Identifiers: chr16:g.23646981del (hg19) ; chr16:g.23635660del (hg38)
• PubMed: PMID:25099575

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635666del , CM000678.2:g.23635666del	GRCh38
NC_000016.9:g.23646987del , CM000678.1:g.23646987del	GRCh37
NC_000016.8:g.23554488del	NCBI36
NG_007406.1:g.10698del , LRG_308:g.10698del

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.892del	ENSP00000460666.3:p.Met298Ter
ENST00000565038.2:c.211+2190del	ENSP00000459882.2:n.211+2190del
ENST00000566069.6:c.886del	ENSP00000459237.2:p.Met296Ter
ENST00000697377.2:c.892del	ENSP00000513286.2:p.Met298Ter
ENST00000697379.2:c.892del	ENSP00000513287.2:p.Met298Ter
ENST00000561514.2:c.1del	ENSP00000460666.2:p.Met1Ter
ENST00000697374.1:c.1del	ENSP00000513284.1:p.Met1Ter
ENST00000697375.1:n.2233del
ENST00000697376.1:c.1del	ENSP00000513285.1:p.Met1Ter
ENST00000697377.1:c.1del	ENSP00000513286.1:p.Met1Ter
ENST00000697378.1:n.1406del
ENST00000697379.1:c.1del	ENSP00000513287.1:p.Met1Ter
ENST00000697382.1:c.1del	ENSP00000513288.1:p.Met1Ter
ENST00000697383.1:c.48+5450del	ENSP00000513289.1:n.48+5450del
ENST00000697384.1:n.1040del
ENST00000261584.9:c.886del MANE Select	ENSP00000261584.4:p.Met296Ter
ENST00000261584.8:c.886del	ENSP00000261584.4:p.Met296Ter
ENST00000565038.1:c.86+2190del
ENST00000568219.5:c.1del	ENSP00000454703.2:p.Met1Ter
NM_024675.3:c.886del , LRG_308t1:c.886del	NP_078951.2:p.Met296Ter
XM_011545946.1:c.892del	XP_011544248.1:p.Met298Ter
XM_011545947.1:c.892del	XP_011544249.1:p.Met298Ter
XM_011545948.1:c.1del	XP_011544250.1:p.Met1Ter
XR_950851.1:n.1682del
XM_011545946.2:c.892del	XP_011544248.1:p.Met298Ter
XM_011545947.2:c.892del	XP_011544249.1:p.Met298Ter
XM_011545948.2:c.1del	XP_011544250.1:p.Met1Ter
XM_017023671.1:c.892del	XP_016879160.1:p.Met298Ter
XM_017023672.2:c.886del	XP_016879161.1:p.Met296Ter
XM_017023673.2:c.886del	XP_016879162.1:p.Met296Ter
NM_024675.4:c.886del MANE Select	NP_078951.2:p.Met296Ter