Canonical Allele Identifier: CA2739266661

Gene: PALB2

Linked Data

• ClinVar Variation Id: 2843459
• ClinVar RCV Id: RCV003608206

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603475_23603476insT , CM000678.2:g.23603475_23603476insT	GRCh38
NC_000016.9:g.23614796_23614797insT , CM000678.1:g.23614796_23614797insT	GRCh37
NC_000016.8:g.23522297_23522298insT	NCBI36
NG_007406.1:g.42882_42883insA , LRG_308:g.42882_42883insA

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3550_3551insA	ENSP00000460666.3:p.Val1184AspfsTer8
ENST00000565038.2:c.*1029_*1030insA	ENSP00000459882.2:n.*1029_*1030insA
ENST00000566069.6:c.*179_*180insA	ENSP00000459237.2:n.*179_*180insA
ENST00000697377.2:c.3388_3389insA	ENSP00000513286.2:p.Val1130AspfsTer8
ENST00000697379.2:c.3550_3551insA	ENSP00000513287.2:p.Val1184AspfsTer8
ENST00000561514.2:c.2659_2660insA	ENSP00000460666.2:p.Val887AspfsTer8
ENST00000697374.1:c.2659_2660insA	ENSP00000513284.1:p.Val887AspfsTer8
ENST00000697375.1:n.4891_4892insA
ENST00000697376.1:c.*179_*180insA	ENSP00000513285.1:n.*179_*180insA
ENST00000697377.1:c.2497_2498insA	ENSP00000513286.1:p.Val833AspfsTer8
ENST00000697378.1:n.4064_4065insA
ENST00000697379.1:c.2659_2660insA	ENSP00000513287.1:p.Val887AspfsTer8
ENST00000697380.1:n.2748_2749insA
ENST00000697381.1:n.2239_2240insA
ENST00000697382.1:c.*321_*322insA	ENSP00000513288.1:n.*321_*322insA
ENST00000697383.1:c.1078_1079insA	ENSP00000513289.1:p.Val360AspfsTer8
ENST00000261584.9:c.3544_3545insA MANE Select	ENSP00000261584.4:p.Val1182AspfsTer8
ENST00000261584.8:c.3544_3545insA	ENSP00000261584.4:p.Val1182AspfsTer8
ENST00000566069.5:c.310_311insA
ENST00000568219.5:c.2659_2660insA	ENSP00000454703.2:p.Val887AspfsTer8
NM_024675.3:c.3544_3545insA , LRG_308t1:c.3544_3545insA	NP_078951.2:p.Val1182AspfsTer8
XM_011545946.1:c.3550_3551insA	XP_011544248.1:p.Val1184AspfsTer8
XM_011545947.1:c.*179_*180insA	XP_011544249.1:n.*179_*180insA
XM_011545948.1:c.2659_2660insA	XP_011544250.1:p.Val887AspfsTer8
XR_950851.1:n.4252_4253insA
XM_011545946.2:c.3550_3551insA	XP_011544248.1:p.Val1184AspfsTer8
XM_011545947.2:c.*179_*180insA	XP_011544249.1:n.*179_*180insA
XM_011545948.2:c.2659_2660insA	XP_011544250.1:p.Val887AspfsTer8
XM_017023671.1:c.3313_3314insA	XP_016879160.1:p.Val1105AspfsTer8
XM_017023672.2:c.3307_3308insA	XP_016879161.1:p.Val1103AspfsTer8
XM_017023673.2:c.*179_*180insA	XP_016879162.1:n.*179_*180insA
NM_024675.4:c.3544_3545insA MANE Select	NP_078951.2:p.Val1182AspfsTer8