Canonical Allele Identifier: CA658658395

Gene: PALB2

Linked Data

• ClinVar Variation Id: 480247
• ClinVar RCV Id: RCV000564176 ; RCV003451224
• dbSNP Id: rs1555459528
• gnomAD v3: 16-23623001-TTG-T
• gnomAD v4: 16-23623001-TTG-T
• MyVariant Identifiers: chr16:g.23634323_23634324del (hg19) ; chr16:g.23623002_23623003del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23623003_23623004del , CM000678.2:g.23623003_23623004del	GRCh38
NC_000016.9:g.23634324_23634325del , CM000678.1:g.23634324_23634325del	GRCh37
NC_000016.8:g.23541825_23541826del	NCBI36
NG_007406.1:g.23355_23356del , LRG_308:g.23355_23356del

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.2968_2969del	ENSP00000460666.3:p.Gln990SerfsTer22
ENST00000565038.2:c.*443_*444del	ENSP00000459882.2:n.*443_*444del
ENST00000566069.6:c.2962_2963del	ENSP00000459237.2:p.Gln988SerfsTer22
ENST00000697377.2:c.2806_2807del	ENSP00000513286.2:p.Gln936SerfsTer22
ENST00000697379.2:c.2968_2969del	ENSP00000513287.2:p.Gln990SerfsTer22
ENST00000561514.2:c.2077_2078del	ENSP00000460666.2:p.Gln693SerfsTer22
ENST00000697374.1:c.2077_2078del	ENSP00000513284.1:p.Gln693SerfsTer22
ENST00000697375.1:n.4309_4310del
ENST00000697376.1:c.2077_2078del	ENSP00000513285.1:p.Gln693SerfsTer22
ENST00000697377.1:c.1915_1916del	ENSP00000513286.1:p.Gln639SerfsTer22
ENST00000697378.1:n.3482_3483del
ENST00000697379.1:c.2077_2078del	ENSP00000513287.1:p.Gln693SerfsTer22
ENST00000697380.1:n.2254_2255del
ENST00000697381.1:n.1657_1658del
ENST00000697382.1:c.2077_2078del	ENSP00000513288.1:p.Gln693SerfsTer22
ENST00000697383.1:c.496_497del	ENSP00000513289.1:p.Gln166SerfsTer22
ENST00000261584.9:c.2962_2963del MANE Select	ENSP00000261584.4:p.Gln988SerfsTer22
ENST00000261584.8:c.2962_2963del	ENSP00000261584.4:p.Gln988SerfsTer22
ENST00000568219.5:c.2077_2078del	ENSP00000454703.2:p.Gln693SerfsTer22
NM_024675.3:c.2962_2963del , LRG_308t1:c.2962_2963del	NP_078951.2:p.Gln988SerfsTer22
XM_011545946.1:c.2968_2969del	XP_011544248.1:p.Gln990SerfsTer22
XM_011545947.1:c.2968_2969del	XP_011544249.1:p.Gln990SerfsTer22
XM_011545948.1:c.2077_2078del	XP_011544250.1:p.Gln693SerfsTer22
XR_950851.1:n.3758_3759del
XM_011545946.2:c.2968_2969del	XP_011544248.1:p.Gln990SerfsTer22
XM_011545947.2:c.2968_2969del	XP_011544249.1:p.Gln990SerfsTer22
XM_011545948.2:c.2077_2078del	XP_011544250.1:p.Gln693SerfsTer22
XM_017023671.1:c.2968_2969del	XP_016879160.1:p.Gln990SerfsTer22
XM_017023672.2:c.2962_2963del	XP_016879161.1:p.Gln988SerfsTer22
XM_017023673.2:c.2962_2963del	XP_016879162.1:p.Gln988SerfsTer22
NM_024675.4:c.2962_2963del MANE Select	NP_078951.2:p.Gln988SerfsTer22