Canonical Allele Identifier: CA916081857

Gene: PALB2

Linked Data

• ClinVar Variation Id: 830141
• ClinVar RCV Id: RCV001030231
• dbSNP Id: rs1966964993

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635077_23635082del , CM000678.2:g.23635077_23635082del	GRCh38
NC_000016.9:g.23646398_23646403del , CM000678.1:g.23646398_23646403del	GRCh37
NC_000016.8:g.23553899_23553904del	NCBI36
NG_007406.1:g.11277_11282del , LRG_308:g.11277_11282del

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.1471_1476del	ENSP00000460666.3:p.Ser491_Pro492del
ENST00000565038.2:c.211+2769_211+2774del	ENSP00000459882.2:n.211+2769_211+2774del
ENST00000566069.6:c.1465_1470del	ENSP00000459237.2:p.Ser489_Pro490del
ENST00000697377.2:c.1471_1476del	ENSP00000513286.2:p.Ser491_Pro492del
ENST00000697379.2:c.1471_1476del	ENSP00000513287.2:p.Ser491_Pro492del
ENST00000561514.2:c.580_585del	ENSP00000460666.2:p.Ser194_Pro195del
ENST00000697374.1:c.580_585del	ENSP00000513284.1:p.Ser194_Pro195del
ENST00000697375.1:n.2812_2817del
ENST00000697376.1:c.580_585del	ENSP00000513285.1:p.Ser194_Pro195del
ENST00000697377.1:c.580_585del	ENSP00000513286.1:p.Ser194_Pro195del
ENST00000697378.1:n.1985_1990del
ENST00000697379.1:c.580_585del	ENSP00000513287.1:p.Ser194_Pro195del
ENST00000697382.1:c.580_585del	ENSP00000513288.1:p.Ser194_Pro195del
ENST00000697383.1:c.49-5806_49-5801del	ENSP00000513289.1:n.49-5806_49-5801del
ENST00000697384.1:n.1619_1624del
ENST00000261584.9:c.1465_1470del MANE Select	ENSP00000261584.4:p.Ser489_Pro490del
ENST00000261584.8:c.1465_1470del	ENSP00000261584.4:p.Ser489_Pro490del
ENST00000565038.1:c.86+2769_86+2774del
ENST00000568219.5:c.580_585del	ENSP00000454703.2:p.Ser194_Pro195del
NM_024675.3:c.1465_1470del , LRG_308t1:c.1465_1470del	NP_078951.2:p.Ser489_Pro490del
XM_011545946.1:c.1471_1476del	XP_011544248.1:p.Ser491_Pro492del
XM_011545947.1:c.1471_1476del	XP_011544249.1:p.Ser491_Pro492del
XM_011545948.1:c.580_585del	XP_011544250.1:p.Ser194_Pro195del
XR_950851.1:n.2261_2266del
XM_011545946.2:c.1471_1476del	XP_011544248.1:p.Ser491_Pro492del
XM_011545947.2:c.1471_1476del	XP_011544249.1:p.Ser491_Pro492del
XM_011545948.2:c.580_585del	XP_011544250.1:p.Ser194_Pro195del
XM_017023671.1:c.1471_1476del	XP_016879160.1:p.Ser491_Pro492del
XM_017023672.2:c.1465_1470del	XP_016879161.1:p.Ser489_Pro490del
XM_017023673.2:c.1465_1470del	XP_016879162.1:p.Ser489_Pro490del
NM_024675.4:c.1465_1470del MANE Select	NP_078951.2:p.Ser489_Pro490del