Canonical Allele Identifier: CA915941070

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1453402
• ClinVar RCV Id: RCV002002389 ; RCV002441103
• dbSNP Id: rs587776418
• ERepo: CA915941070/MONDO:0016419/020

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23624057_23624058dup , CM000678.2:g.23624057_23624058dup	GRCh38
NC_000016.9:g.23635378_23635379dup , CM000678.1:g.23635378_23635379dup	GRCh37
NC_000016.8:g.23542879_23542880dup	NCBI36
NG_007406.1:g.22302_22303dup , LRG_308:g.22302_22303dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.2793_2794dup	ENSP00000460666.3:p.Asn932IlefsTer6
ENST00000565038.2:c.*268_*269dup	ENSP00000459882.2:n.*268_*269dup
ENST00000566069.6:c.2787_2788dup	ENSP00000459237.2:p.Asn930IlefsTer6
ENST00000697377.2:c.2631_2632dup	ENSP00000513286.2:p.Asn878IlefsTer6
ENST00000697379.2:c.2793_2794dup	ENSP00000513287.2:p.Asn932IlefsTer6
ENST00000561514.2:c.1902_1903dup	ENSP00000460666.2:p.Asn635IlefsTer6
ENST00000697374.1:c.1902_1903dup	ENSP00000513284.1:p.Asn635IlefsTer6
ENST00000697375.1:n.4134_4135dup
ENST00000697376.1:c.1902_1903dup	ENSP00000513285.1:p.Asn635IlefsTer6
ENST00000697377.1:c.1740_1741dup	ENSP00000513286.1:p.Asn581IlefsTer6
ENST00000697378.1:n.3307_3308dup
ENST00000697379.1:c.1902_1903dup	ENSP00000513287.1:p.Asn635IlefsTer6
ENST00000697380.1:n.2079_2080dup
ENST00000697381.1:n.1482_1483dup
ENST00000697382.1:c.1902_1903dup	ENSP00000513288.1:p.Asn635IlefsTer6
ENST00000697383.1:c.321_322dup	ENSP00000513289.1:p.Asn108IlefsTer6
ENST00000261584.9:c.2787_2788dup MANE Select	ENSP00000261584.4:p.Asn930IlefsTer6
ENST00000261584.8:c.2787_2788dup	ENSP00000261584.4:p.Asn930IlefsTer6
ENST00000568219.5:c.1902_1903dup	ENSP00000454703.2:p.Asn635IlefsTer6
NM_024675.3:c.2787_2788dup , LRG_308t1:c.2787_2788dup	NP_078951.2:p.Asn930IlefsTer6
XM_011545946.1:c.2793_2794dup	XP_011544248.1:p.Asn932IlefsTer6
XM_011545947.1:c.2793_2794dup	XP_011544249.1:p.Asn932IlefsTer6
XM_011545948.1:c.1902_1903dup	XP_011544250.1:p.Asn635IlefsTer6
XR_950851.1:n.3583_3584dup
XM_011545946.2:c.2793_2794dup	XP_011544248.1:p.Asn932IlefsTer6
XM_011545947.2:c.2793_2794dup	XP_011544249.1:p.Asn932IlefsTer6
XM_011545948.2:c.1902_1903dup	XP_011544250.1:p.Asn635IlefsTer6
XM_017023671.1:c.2793_2794dup	XP_016879160.1:p.Asn932IlefsTer6
XM_017023672.2:c.2787_2788dup	XP_016879161.1:p.Asn930IlefsTer6
XM_017023673.2:c.2787_2788dup	XP_016879162.1:p.Asn930IlefsTer6
NM_024675.4:c.2787_2788dup MANE Select	NP_078951.2:p.Asn930IlefsTer6