Canonical Allele Identifier: CA10588609

Gene: PALB2

Linked Data

• ClinVar Variation Id: 265558
• ClinVar RCV Id: RCV000255534 ; RCV003500524
• dbSNP Id: rs886039624
• MyVariant Identifiers: chr16:g.23646217del (hg19) ; chr16:g.23634896del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23634898del , CM000678.2:g.23634898del	GRCh38
NC_000016.9:g.23646219del , CM000678.1:g.23646219del	GRCh37
NC_000016.8:g.23553720del	NCBI36
NG_007406.1:g.11462del , LRG_308:g.11462del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.1656del	ENSP00000460666.3:p.Lys552AsnfsTer11
ENST00000565038.2:c.211+2954del	ENSP00000459882.2:n.211+2954del
ENST00000566069.6:c.1650del	ENSP00000459237.2:p.Lys550AsnfsTer11
ENST00000697377.2:c.1656del	ENSP00000513286.2:p.Lys552AsnfsTer11
ENST00000697379.2:c.1656del	ENSP00000513287.2:p.Lys552AsnfsTer11
ENST00000561514.2:c.765del	ENSP00000460666.2:p.Lys255AsnfsTer11
ENST00000697374.1:c.765del	ENSP00000513284.1:p.Lys255AsnfsTer11
ENST00000697375.1:n.2997del
ENST00000697376.1:c.765del	ENSP00000513285.1:p.Lys255AsnfsTer11
ENST00000697377.1:c.765del	ENSP00000513286.1:p.Lys255AsnfsTer11
ENST00000697378.1:n.2170del
ENST00000697379.1:c.765del	ENSP00000513287.1:p.Lys255AsnfsTer11
ENST00000697382.1:c.765del	ENSP00000513288.1:p.Lys255AsnfsTer11
ENST00000697383.1:c.49-5621del	ENSP00000513289.1:n.49-5621del
ENST00000697384.1:n.1804del
ENST00000261584.9:c.1650del MANE Select	ENSP00000261584.4:p.Lys550AsnfsTer11
ENST00000261584.8:c.1650del	ENSP00000261584.4:p.Lys550AsnfsTer11
ENST00000565038.1:c.86+2954del
ENST00000568219.5:c.765del	ENSP00000454703.2:p.Lys255AsnfsTer11
NM_024675.3:c.1650del , LRG_308t1:c.1650del	NP_078951.2:p.Lys550AsnfsTer11
XM_011545946.1:c.1656del	XP_011544248.1:p.Lys552AsnfsTer11
XM_011545947.1:c.1656del	XP_011544249.1:p.Lys552AsnfsTer11
XM_011545948.1:c.765del	XP_011544250.1:p.Lys255AsnfsTer11
XR_950851.1:n.2446del
XM_011545946.2:c.1656del	XP_011544248.1:p.Lys552AsnfsTer11
XM_011545947.2:c.1656del	XP_011544249.1:p.Lys552AsnfsTer11
XM_011545948.2:c.765del	XP_011544250.1:p.Lys255AsnfsTer11
XM_017023671.1:c.1656del	XP_016879160.1:p.Lys552AsnfsTer11
XM_017023672.2:c.1650del	XP_016879161.1:p.Lys550AsnfsTer11
XM_017023673.2:c.1650del	XP_016879162.1:p.Lys550AsnfsTer11
NM_024675.4:c.1650del MANE Select	NP_078951.2:p.Lys550AsnfsTer11