Canonical Allele Identifier: CA2695197570

Gene: PALB2

Linked Data

• ClinVar Variation Id: 2673873
• ClinVar RCV Id: RCV003450490

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603473_23603483delinsCTACATT , CM000678.2:g.23603473_23603483delinsCTACATT	GRCh38
NC_000016.9:g.23614794_23614804delinsCTACATT , CM000678.1:g.23614794_23614804delinsCTACATT	GRCh37
NC_000016.8:g.23522295_23522305delinsCTACATT	NCBI36
NG_007406.1:g.42875_42885delinsAATGTAG , LRG_308:g.42875_42885delinsAATGTAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3543_3553delinsAATGTAG	ENSP00000460666.3:p.Asn1181LysfsTer3
ENST00000565038.2:c.*1022_*1032delinsAATGTAG	ENSP00000459882.2:n.*1022_*1032delinsAATGTAG
ENST00000566069.6:c.*172_*182delinsAATGTAG	ENSP00000459237.2:n.*172_*182delinsAATGTAG
ENST00000697377.2:c.3381_3391delinsAATGTAG	ENSP00000513286.2:p.Asn1127LysfsTer3
ENST00000697379.2:c.3543_3553delinsAATGTAG	ENSP00000513287.2:p.Asn1181LysfsTer3
ENST00000561514.2:c.2652_2662delinsAATGTAG	ENSP00000460666.2:p.Asn884LysfsTer3
ENST00000697374.1:c.2652_2662delinsAATGTAG	ENSP00000513284.1:p.Asn884LysfsTer3
ENST00000697375.1:n.4884_4894delinsAATGTAG
ENST00000697376.1:c.*172_*182delinsAATGTAG	ENSP00000513285.1:n.*172_*182delinsAATGTAG
ENST00000697377.1:c.2490_2500delinsAATGTAG	ENSP00000513286.1:p.Asn830LysfsTer3
ENST00000697378.1:n.4057_4067delinsAATGTAG
ENST00000697379.1:c.2652_2662delinsAATGTAG	ENSP00000513287.1:p.Asn884LysfsTer3
ENST00000697380.1:n.2741_2751delinsAATGTAG
ENST00000697381.1:n.2232_2242delinsAATGTAG
ENST00000697382.1:c.*314_*324delinsAATGTAG	ENSP00000513288.1:n.*314_*324delinsAATGTAG
ENST00000697383.1:c.1071_1081delinsAATGTAG	ENSP00000513289.1:p.Asn357LysfsTer3
ENST00000261584.9:c.3537_3547delinsAATGTAG MANE Select	ENSP00000261584.4:p.Asn1179LysfsTer3
ENST00000261584.8:c.3537_3547delinsAATGTAG	ENSP00000261584.4:p.Asn1179LysfsTer3
ENST00000566069.5:c.303_313delinsAATGTAG
ENST00000568219.5:c.2652_2662delinsAATGTAG	ENSP00000454703.2:p.Asn884LysfsTer3
NM_024675.3:c.3537_3547delinsAATGTAG , LRG_308t1:c.3537_3547delinsAATGTAG	NP_078951.2:p.Asn1179LysfsTer3
XM_011545946.1:c.3543_3553delinsAATGTAG	XP_011544248.1:p.Asn1181LysfsTer3
XM_011545947.1:c.*172_*182delinsAATGTAG	XP_011544249.1:n.*172_*182delinsAATGTAG
XM_011545948.1:c.2652_2662delinsAATGTAG	XP_011544250.1:p.Asn884LysfsTer3
XR_950851.1:n.4245_4255delinsAATGTAG
XM_011545946.2:c.3543_3553delinsAATGTAG	XP_011544248.1:p.Asn1181LysfsTer3
XM_011545947.2:c.*172_*182delinsAATGTAG	XP_011544249.1:n.*172_*182delinsAATGTAG
XM_011545948.2:c.2652_2662delinsAATGTAG	XP_011544250.1:p.Asn884LysfsTer3
XM_017023671.1:c.3306_3316delinsAATGTAG	XP_016879160.1:p.Asn1102LysfsTer3
XM_017023672.2:c.3300_3310delinsAATGTAG	XP_016879161.1:p.Asn1100LysfsTer3
XM_017023673.2:c.*172_*182delinsAATGTAG	XP_016879162.1:n.*172_*182delinsAATGTAG
NM_024675.4:c.3537_3547delinsAATGTAG MANE Select	NP_078951.2:p.Asn1179LysfsTer3