Canonical Allele Identifier: CA7963795

Gene: PALB2

Linked Data

• ClinVar Variation Id: 371807
• ClinVar RCV Id: RCV000410910 ; RCV000482861 ; RCV000569782
• dbSNP Id: rs760629975
• ExAC: 16:23647424 TTTC / T
• gnomAD v2: 16-23647424-TTTC-T
• MyVariant Identifiers: chr16:g.23647425_23647427del (hg19) ; chr16:g.23636104_23636106del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23636108_23636110del , CM000678.2:g.23636108_23636110del	GRCh38
NC_000016.9:g.23647429_23647431del , CM000678.1:g.23647429_23647431del	GRCh37
NC_000016.8:g.23554930_23554932del	NCBI36
NG_007406.1:g.10252_10254del , LRG_308:g.10252_10254del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.446_448del	ENSP00000460666.3:p.Arg149del
ENST00000565038.2:c.211+1744_211+1746del	ENSP00000459882.2:n.211+1744_211+1746del
ENST00000566069.6:c.440_442del	ENSP00000459237.2:p.Arg147del
ENST00000697377.2:c.446_448del	ENSP00000513286.2:p.Arg149del
ENST00000697379.2:c.446_448del	ENSP00000513287.2:p.Arg149del
ENST00000561514.2:c.-446_-444del	ENSP00000460666.2:n.-446_-444del
ENST00000697374.1:c.-446_-444del	ENSP00000513284.1:n.-446_-444del
ENST00000697375.1:n.1787_1789del
ENST00000697376.1:c.-446_-444del	ENSP00000513285.1:n.-446_-444del
ENST00000697377.1:c.-446_-444del	ENSP00000513286.1:n.-446_-444del
ENST00000697378.1:n.960_962del
ENST00000697379.1:c.-446_-444del	ENSP00000513287.1:n.-446_-444del
ENST00000697382.1:c.-446_-444del	ENSP00000513288.1:n.-446_-444del
ENST00000697383.1:c.48+5004_48+5006del	ENSP00000513289.1:n.48+5004_48+5006del
ENST00000697384.1:n.594_596del
ENST00000261584.9:c.440_442del MANE Select	ENSP00000261584.4:p.Arg147del
ENST00000261584.8:c.440_442del	ENSP00000261584.4:p.Arg147del
ENST00000565038.1:c.86+1744_86+1746del
ENST00000567003.1:n.718_720del
ENST00000568219.5:c.-446_-444del	ENSP00000454703.2:n.-446_-444del
NM_024675.3:c.440_442del , LRG_308t1:c.440_442del	NP_078951.2:p.Arg147del
XM_011545946.1:c.446_448del	XP_011544248.1:p.Arg149del
XM_011545947.1:c.446_448del	XP_011544249.1:p.Arg149del
XM_011545948.1:c.-446_-444del	XP_011544250.1:n.-446_-444del
XR_950851.1:n.1236_1238del
XM_011545946.2:c.446_448del	XP_011544248.1:p.Arg149del
XM_011545947.2:c.446_448del	XP_011544249.1:p.Arg149del
XM_011545948.2:c.-446_-444del	XP_011544250.1:n.-446_-444del
XM_017023671.1:c.446_448del	XP_016879160.1:p.Arg149del
XM_017023672.2:c.440_442del	XP_016879161.1:p.Arg147del
XM_017023673.2:c.440_442del	XP_016879162.1:p.Arg147del
NM_024675.4:c.440_442del MANE Select	NP_078951.2:p.Arg147del