Canonical Allele Identifier: CA7963832

Gene: PALB2

Linked Data

• dbSNP Id: rs778387993
• ExAC: 16:23649219 GT / G
• gnomAD v2: 16-23649219-GT-G
• gnomAD v4: 16-23637898-GT-G
• MyVariant Identifiers: chr16:g.23649220del (hg19) ; chr16:g.23637899del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23637900del , CM000678.2:g.23637900del	GRCh38
NC_000016.9:g.23649221del , CM000678.1:g.23649221del	GRCh37
NC_000016.8:g.23556722del	NCBI36
NG_007406.1:g.8459del , LRG_308:g.8459del

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.168del	ENSP00000460666.3:p.Glu56AspfsTer14
ENST00000565038.2:c.162del	ENSP00000459882.2:p.Glu54AspfsTer14
ENST00000566069.6:c.162del	ENSP00000459237.2:p.Glu54AspfsTer14
ENST00000697377.2:c.168del	ENSP00000513286.2:p.Glu56AspfsTer14
ENST00000697379.2:c.168del	ENSP00000513287.2:p.Glu56AspfsTer14
ENST00000561514.2:c.-724del	ENSP00000460666.2:n.-724del
ENST00000697374.1:c.-724del	ENSP00000513284.1:n.-724del
ENST00000697375.1:n.1509del
ENST00000697376.1:c.-724del	ENSP00000513285.1:n.-724del
ENST00000697377.1:c.-724del	ENSP00000513286.1:n.-724del
ENST00000697378.1:n.682del
ENST00000697379.1:c.-724del	ENSP00000513287.1:n.-724del
ENST00000697382.1:c.-724del	ENSP00000513288.1:n.-724del
ENST00000697383.1:c.48+3211del	ENSP00000513289.1:n.48+3211del
ENST00000697384.1:n.316del
ENST00000261584.9:c.162del MANE Select	ENSP00000261584.4:p.Glu54AspfsTer14
ENST00000261584.8:c.162del	ENSP00000261584.4:p.Glu54AspfsTer14
ENST00000561514.1:c.168del	ENSP00000460666.1:p.Glu56AspfsTer14
ENST00000565038.1:c.37del
ENST00000567003.1:n.440del
ENST00000568219.5:c.-724del	ENSP00000454703.2:n.-724del
NM_024675.3:c.162del , LRG_308t1:c.162del	NP_078951.2:p.Glu54AspfsTer14
XM_011545946.1:c.168del	XP_011544248.1:p.Glu56AspfsTer14
XM_011545947.1:c.168del	XP_011544249.1:p.Glu56AspfsTer14
XM_011545948.1:c.-724del	XP_011544250.1:n.-724del
XR_950851.1:n.958del
XM_011545946.2:c.168del	XP_011544248.1:p.Glu56AspfsTer14
XM_011545947.2:c.168del	XP_011544249.1:p.Glu56AspfsTer14
XM_011545948.2:c.-724del	XP_011544250.1:n.-724del
XM_017023671.1:c.168del	XP_016879160.1:p.Glu56AspfsTer14
XM_017023672.2:c.162del	XP_016879161.1:p.Glu54AspfsTer14
XM_017023673.2:c.162del	XP_016879162.1:p.Glu54AspfsTer14
NM_024675.4:c.162del MANE Select	NP_078951.2:p.Glu54AspfsTer14