Canonical Allele Identifier: CA2695197577

Gene: PALB2

Linked Data

• ClinVar Variation Id: 2674054
• ClinVar RCV Id: RCV003452250

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23607877del , CM000678.2:g.23607877del	GRCh38
NC_000016.9:g.23619198del , CM000678.1:g.23619198del	GRCh37
NC_000016.8:g.23526699del	NCBI36
NG_007406.1:g.38483del , LRG_308:g.38483del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3345del	ENSP00000460666.3:p.Gln1116ArgfsTer10
ENST00000565038.2:c.*820del	ENSP00000459882.2:n.*820del
ENST00000566069.6:c.3202-4206del	ENSP00000459237.2:n.3202-4206del
ENST00000697377.2:c.3183del	ENSP00000513286.2:p.Gln1062ArgfsTer10
ENST00000697379.2:c.3345del	ENSP00000513287.2:p.Gln1116ArgfsTer10
ENST00000561514.2:c.2454del	ENSP00000460666.2:p.Gln819ArgfsTer10
ENST00000697374.1:c.2454del	ENSP00000513284.1:p.Gln819ArgfsTer10
ENST00000697375.1:n.4686del
ENST00000697376.1:c.2317-4206del	ENSP00000513285.1:n.2317-4206del
ENST00000697377.1:c.2292del	ENSP00000513286.1:p.Gln765ArgfsTer10
ENST00000697378.1:n.3859del
ENST00000697379.1:c.2454del	ENSP00000513287.1:p.Gln819ArgfsTer10
ENST00000697380.1:n.2543del
ENST00000697381.1:n.2034del
ENST00000697382.1:c.*116del	ENSP00000513288.1:n.*116del
ENST00000697383.1:c.873del	ENSP00000513289.1:p.Gln292ArgfsTer10
ENST00000261584.9:c.3339del MANE Select	ENSP00000261584.4:p.Gln1114ArgfsTer10
ENST00000261584.8:c.3339del	ENSP00000261584.4:p.Gln1114ArgfsTer10
ENST00000566069.5:c.117-4206del
ENST00000568219.5:c.2454del	ENSP00000454703.2:p.Gln819ArgfsTer10
NM_024675.3:c.3339del , LRG_308t1:c.3339del	NP_078951.2:p.Gln1114ArgfsTer10
XM_011545946.1:c.3345del	XP_011544248.1:p.Gln1116ArgfsTer10
XM_011545947.1:c.3208-4206del	XP_011544249.1:n.3208-4206del
XM_011545948.1:c.2454del	XP_011544250.1:p.Gln819ArgfsTer10
XR_950851.1:n.4047del
XM_011545946.2:c.3345del	XP_011544248.1:p.Gln1116ArgfsTer10
XM_011545947.2:c.3208-4206del	XP_011544249.1:n.3208-4206del
XM_011545948.2:c.2454del	XP_011544250.1:p.Gln819ArgfsTer10
XM_017023671.1:c.3120-4206del	XP_016879160.1:n.3120-4206del
XM_017023672.2:c.3114-4206del	XP_016879161.1:n.3114-4206del
XM_017023673.2:c.3202-4206del	XP_016879162.1:n.3202-4206del
NM_024675.4:c.3339del MANE Select	NP_078951.2:p.Gln1114ArgfsTer10