Canonical Allele Identifier: CA10588604

Gene: PALB2

Linked Data

• ClinVar Variation Id: 265633
• ClinVar RCV Id: RCV000256067 ; RCV000576650 ; RCV001018066 ; RCV003492021
• dbSNP Id: rs886039683
• gnomAD v4: 16-23621457-CA-C
• MyVariant Identifiers: chr16:g.23632779del (hg19) ; chr16:g.23621458del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23621462del , CM000678.2:g.23621462del	GRCh38
NC_000016.9:g.23632783del , CM000678.1:g.23632783del	GRCh37
NC_000016.8:g.23540284del	NCBI36
NG_007406.1:g.24900del , LRG_308:g.24900del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3023del	ENSP00000460666.3:p.Leu1008Ter
ENST00000565038.2:c.*498del	ENSP00000459882.2:n.*498del
ENST00000566069.6:c.3017del	ENSP00000459237.2:p.Leu1006Ter
ENST00000697377.2:c.2861del	ENSP00000513286.2:p.Leu954Ter
ENST00000697379.2:c.3023del	ENSP00000513287.2:p.Leu1008Ter
ENST00000561514.2:c.2132del	ENSP00000460666.2:p.Leu711Ter
ENST00000697374.1:c.2132del	ENSP00000513284.1:p.Leu711Ter
ENST00000697375.1:n.4364del
ENST00000697376.1:c.2132del	ENSP00000513285.1:p.Leu711Ter
ENST00000697377.1:c.1970del	ENSP00000513286.1:p.Leu657Ter
ENST00000697378.1:n.3537del
ENST00000697379.1:c.2132del	ENSP00000513287.1:p.Leu711Ter
ENST00000697380.1:n.2309del
ENST00000697381.1:n.1712del
ENST00000697382.1:c.2132del	ENSP00000513288.1:p.Leu711Ter
ENST00000697383.1:c.551del	ENSP00000513289.1:p.Leu184Ter
ENST00000261584.9:c.3017del MANE Select	ENSP00000261584.4:p.Leu1006Ter
ENST00000261584.8:c.3017del	ENSP00000261584.4:p.Leu1006Ter
ENST00000568219.5:c.2132del	ENSP00000454703.2:p.Leu711Ter
NM_024675.3:c.3017del , LRG_308t1:c.3017del	NP_078951.2:p.Leu1006Ter
XM_011545946.1:c.3023del	XP_011544248.1:p.Leu1008Ter
XM_011545947.1:c.3023del	XP_011544249.1:p.Leu1008Ter
XM_011545948.1:c.2132del	XP_011544250.1:p.Leu711Ter
XR_950851.1:n.3813del
XM_011545946.2:c.3023del	XP_011544248.1:p.Leu1008Ter
XM_011545947.2:c.3023del	XP_011544249.1:p.Leu1008Ter
XM_011545948.2:c.2132del	XP_011544250.1:p.Leu711Ter
XM_017023671.1:c.3023del	XP_016879160.1:p.Leu1008Ter
XM_017023672.2:c.3017del	XP_016879161.1:p.Leu1006Ter
XM_017023673.2:c.3017del	XP_016879162.1:p.Leu1006Ter
NM_024675.4:c.3017del MANE Select	NP_078951.2:p.Leu1006Ter