Canonical Allele Identifier: CA7963658

Gene: PALB2

Linked Data

• dbSNP Id: rs773733701
• ExAC: 16:23641663 CAGT / C
• gnomAD v2: 16-23641663-CAGT-C
• gnomAD v4: 16-23630342-CAGT-C
• MyVariant Identifiers: chr16:g.23641664_23641666del (hg19) ; chr16:g.23630343_23630345del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23630346_23630348del , CM000678.2:g.23630346_23630348del	GRCh38
NC_000016.9:g.23641667_23641669del , CM000678.1:g.23641667_23641669del	GRCh37
NC_000016.8:g.23549168_23549170del	NCBI36
NG_007406.1:g.16013_16015del , LRG_308:g.16013_16015del

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.1815_1817del	ENSP00000460666.3:p.Leu606del
ENST00000565038.2:c.212-1070_212-1068del	ENSP00000459882.2:n.212-1070_212-1068del
ENST00000566069.6:c.1809_1811del	ENSP00000459237.2:p.Leu604del
ENST00000697377.2:c.1815_1817del	ENSP00000513286.2:p.Leu606del
ENST00000697379.2:c.1815_1817del	ENSP00000513287.2:p.Leu606del
ENST00000561514.2:c.924_926del	ENSP00000460666.2:p.Leu309del
ENST00000697374.1:c.924_926del	ENSP00000513284.1:p.Leu309del
ENST00000697375.1:n.3156_3158del
ENST00000697376.1:c.924_926del	ENSP00000513285.1:p.Leu309del
ENST00000697377.1:c.924_926del	ENSP00000513286.1:p.Leu309del
ENST00000697378.1:n.2329_2331del
ENST00000697379.1:c.924_926del	ENSP00000513287.1:p.Leu309del
ENST00000697380.1:n.737_739del
ENST00000697381.1:n.504_506del
ENST00000697382.1:c.924_926del	ENSP00000513288.1:p.Leu309del
ENST00000697383.1:c.49-1070_49-1068del	ENSP00000513289.1:n.49-1070_49-1068del
ENST00000697384.1:n.1963_1965del
ENST00000261584.9:c.1809_1811del MANE Select	ENSP00000261584.4:p.Leu604del
ENST00000261584.8:c.1809_1811del	ENSP00000261584.4:p.Leu604del
ENST00000565038.1:c.87-1070_87-1068del
ENST00000568219.5:c.924_926del	ENSP00000454703.2:p.Leu309del
NM_024675.3:c.1809_1811del , LRG_308t1:c.1809_1811del	NP_078951.2:p.Leu604del
XM_011545946.1:c.1815_1817del	XP_011544248.1:p.Leu606del
XM_011545947.1:c.1815_1817del	XP_011544249.1:p.Leu606del
XM_011545948.1:c.924_926del	XP_011544250.1:p.Leu309del
XR_950851.1:n.2605_2607del
XM_011545946.2:c.1815_1817del	XP_011544248.1:p.Leu606del
XM_011545947.2:c.1815_1817del	XP_011544249.1:p.Leu606del
XM_011545948.2:c.924_926del	XP_011544250.1:p.Leu309del
XM_017023671.1:c.1815_1817del	XP_016879160.1:p.Leu606del
XM_017023672.2:c.1809_1811del	XP_016879161.1:p.Leu604del
XM_017023673.2:c.1809_1811del	XP_016879162.1:p.Leu604del
NM_024675.4:c.1809_1811del MANE Select	NP_078951.2:p.Leu604del