Canonical Allele Identifier: CA915949167

Gene: PALB2

Linked Data

• ClinVar Variation Id: 660496
• ClinVar RCV Id: RCV000817697
• dbSNP Id: rs1597079810

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23621438_23621439del , CM000678.2:g.23621438_23621439del	GRCh38
NC_000016.9:g.23632759_23632760del , CM000678.1:g.23632759_23632760del	GRCh37
NC_000016.8:g.23540260_23540261del	NCBI36
NG_007406.1:g.24921_24922del , LRG_308:g.24921_24922del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3044_3045del	ENSP00000460666.3:p.Ile1015ThrfsTer5
ENST00000565038.2:c.*519_*520del	ENSP00000459882.2:n.*519_*520del
ENST00000566069.6:c.3038_3039del	ENSP00000459237.2:p.Ile1013ThrfsTer5
ENST00000697377.2:c.2882_2883del	ENSP00000513286.2:p.Ile961ThrfsTer5
ENST00000697379.2:c.3044_3045del	ENSP00000513287.2:p.Ile1015ThrfsTer5
ENST00000561514.2:c.2153_2154del	ENSP00000460666.2:p.Ile718ThrfsTer5
ENST00000697374.1:c.2153_2154del	ENSP00000513284.1:p.Ile718ThrfsTer5
ENST00000697375.1:n.4385_4386del
ENST00000697376.1:c.2153_2154del	ENSP00000513285.1:p.Ile718ThrfsTer5
ENST00000697377.1:c.1991_1992del	ENSP00000513286.1:p.Ile664ThrfsTer5
ENST00000697378.1:n.3558_3559del
ENST00000697379.1:c.2153_2154del	ENSP00000513287.1:p.Ile718ThrfsTer5
ENST00000697380.1:n.2330_2331del
ENST00000697381.1:n.1733_1734del
ENST00000697382.1:c.2153_2154del	ENSP00000513288.1:p.Ile718ThrfsTer5
ENST00000697383.1:c.572_573del	ENSP00000513289.1:p.Ile191ThrfsTer5
ENST00000261584.9:c.3038_3039del MANE Select	ENSP00000261584.4:p.Ile1013ThrfsTer5
ENST00000261584.8:c.3038_3039del	ENSP00000261584.4:p.Ile1013ThrfsTer5
ENST00000568219.5:c.2153_2154del	ENSP00000454703.2:p.Ile718ThrfsTer5
NM_024675.3:c.3038_3039del , LRG_308t1:c.3038_3039del	NP_078951.2:p.Ile1013ThrfsTer5
XM_011545946.1:c.3044_3045del	XP_011544248.1:p.Ile1015ThrfsTer5
XM_011545947.1:c.3044_3045del	XP_011544249.1:p.Ile1015ThrfsTer5
XM_011545948.1:c.2153_2154del	XP_011544250.1:p.Ile718ThrfsTer5
XR_950851.1:n.3834_3835del
XM_011545946.2:c.3044_3045del	XP_011544248.1:p.Ile1015ThrfsTer5
XM_011545947.2:c.3044_3045del	XP_011544249.1:p.Ile1015ThrfsTer5
XM_011545948.2:c.2153_2154del	XP_011544250.1:p.Ile718ThrfsTer5
XM_017023671.1:c.3044_3045del	XP_016879160.1:p.Ile1015ThrfsTer5
XM_017023672.2:c.3038_3039del	XP_016879161.1:p.Ile1013ThrfsTer5
XM_017023673.2:c.3038_3039del	XP_016879162.1:p.Ile1013ThrfsTer5
NM_024675.4:c.3038_3039del MANE Select	NP_078951.2:p.Ile1013ThrfsTer5