Canonical Allele Identifier: CA2580091375

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1790132
• ClinVar RCV Id: RCV002448518

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23636313del , CM000678.2:g.23636313del	GRCh38
NC_000016.9:g.23647634del , CM000678.1:g.23647634del	GRCh37
NC_000016.8:g.23555135del	NCBI36
NG_007406.1:g.10047del , LRG_308:g.10047del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.241del	ENSP00000460666.3:p.Tyr81MetfsTer?
ENST00000565038.2:c.211+1539del	ENSP00000459882.2:n.211+1539del
ENST00000566069.6:c.235del	ENSP00000459237.2:p.Tyr79MetfsTer?
ENST00000697377.2:c.241del	ENSP00000513286.2:p.Tyr81MetfsTer?
ENST00000697379.2:c.241del	ENSP00000513287.2:p.Tyr81MetfsTer?
ENST00000561514.2:c.-651del	ENSP00000460666.2:n.-651del
ENST00000697374.1:c.-651del	ENSP00000513284.1:n.-651del
ENST00000697375.1:n.1582del
ENST00000697376.1:c.-651del	ENSP00000513285.1:n.-651del
ENST00000697377.1:c.-651del	ENSP00000513286.1:n.-651del
ENST00000697378.1:n.755del
ENST00000697379.1:c.-651del	ENSP00000513287.1:n.-651del
ENST00000697382.1:c.-651del	ENSP00000513288.1:n.-651del
ENST00000697383.1:c.48+4799del	ENSP00000513289.1:n.48+4799del
ENST00000697384.1:n.389del
ENST00000261584.9:c.235del MANE Select	ENSP00000261584.4:p.Tyr79MetfsTer?
ENST00000261584.8:c.235del	ENSP00000261584.4:p.Tyr79MetfsTer?
ENST00000561514.1:c.241del	ENSP00000460666.1:p.Tyr81MetfsTer?
ENST00000565038.1:c.86+1539del
ENST00000567003.1:n.513del
ENST00000568219.5:c.-651del	ENSP00000454703.2:n.-651del
NM_024675.3:c.235del , LRG_308t1:c.235del	NP_078951.2:p.Tyr79MetfsTer?
XM_011545946.1:c.241del	XP_011544248.1:p.Tyr81MetfsTer?
XM_011545947.1:c.241del	XP_011544249.1:p.Tyr81MetfsTer?
XM_011545948.1:c.-651del	XP_011544250.1:n.-651del
XR_950851.1:n.1031del
XM_011545946.2:c.241del	XP_011544248.1:p.Tyr81MetfsTer?
XM_011545947.2:c.241del	XP_011544249.1:p.Tyr81MetfsTer?
XM_011545948.2:c.-651del	XP_011544250.1:n.-651del
XM_017023671.1:c.241del	XP_016879160.1:p.Tyr81MetfsTer?
XM_017023672.2:c.235del	XP_016879161.1:p.Tyr79MetfsTer?
XM_017023673.2:c.235del	XP_016879162.1:p.Tyr79MetfsTer?
NM_024675.4:c.235del MANE Select	NP_078951.2:p.Tyr79MetfsTer?