Canonical Allele Identifier: CA2580091376

Gene: PALB2

Linked Data

• ClinVar Variation Id: 2107063
• ClinVar RCV Id: RCV003045528

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23630188_23630195del , CM000678.2:g.23630188_23630195del	GRCh38
NC_000016.9:g.23641509_23641516del , CM000678.1:g.23641509_23641516del	GRCh37
NC_000016.8:g.23549010_23549017del	NCBI36
NG_007406.1:g.16163_16170del , LRG_308:g.16163_16170del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.1965_1972del	ENSP00000460666.3:p.Ile656ArgfsTer6
ENST00000565038.2:c.212-920_212-913del	ENSP00000459882.2:n.212-920_212-913del
ENST00000566069.6:c.1959_1966del	ENSP00000459237.2:p.Ile654ArgfsTer6
ENST00000697377.2:c.1965_1972del	ENSP00000513286.2:p.Ile656ArgfsTer6
ENST00000697379.2:c.1965_1972del	ENSP00000513287.2:p.Ile656ArgfsTer6
ENST00000561514.2:c.1074_1081del	ENSP00000460666.2:p.Ile359ArgfsTer6
ENST00000697374.1:c.1074_1081del	ENSP00000513284.1:p.Ile359ArgfsTer6
ENST00000697375.1:n.3306_3313del
ENST00000697376.1:c.1074_1081del	ENSP00000513285.1:p.Ile359ArgfsTer6
ENST00000697377.1:c.1074_1081del	ENSP00000513286.1:p.Ile359ArgfsTer6
ENST00000697378.1:n.2479_2486del
ENST00000697379.1:c.1074_1081del	ENSP00000513287.1:p.Ile359ArgfsTer6
ENST00000697380.1:n.887_894del
ENST00000697381.1:n.654_661del
ENST00000697382.1:c.1074_1081del	ENSP00000513288.1:p.Ile359ArgfsTer6
ENST00000697383.1:c.49-920_49-913del	ENSP00000513289.1:n.49-920_49-913del
ENST00000697384.1:n.2113_2120del
ENST00000261584.9:c.1959_1966del MANE Select	ENSP00000261584.4:p.Ile654ArgfsTer6
ENST00000261584.8:c.1959_1966del	ENSP00000261584.4:p.Ile654ArgfsTer6
ENST00000565038.1:c.87-920_87-913del
ENST00000568219.5:c.1074_1081del	ENSP00000454703.2:p.Ile359ArgfsTer6
NM_024675.3:c.1959_1966del , LRG_308t1:c.1959_1966del	NP_078951.2:p.Ile654ArgfsTer6
XM_011545946.1:c.1965_1972del	XP_011544248.1:p.Ile656ArgfsTer6
XM_011545947.1:c.1965_1972del	XP_011544249.1:p.Ile656ArgfsTer6
XM_011545948.1:c.1074_1081del	XP_011544250.1:p.Ile359ArgfsTer6
XR_950851.1:n.2755_2762del
XM_011545946.2:c.1965_1972del	XP_011544248.1:p.Ile656ArgfsTer6
XM_011545947.2:c.1965_1972del	XP_011544249.1:p.Ile656ArgfsTer6
XM_011545948.2:c.1074_1081del	XP_011544250.1:p.Ile359ArgfsTer6
XM_017023671.1:c.1965_1972del	XP_016879160.1:p.Ile656ArgfsTer6
XM_017023672.2:c.1959_1966del	XP_016879161.1:p.Ile654ArgfsTer6
XM_017023673.2:c.1959_1966del	XP_016879162.1:p.Ile654ArgfsTer6
NM_024675.4:c.1959_1966del MANE Select	NP_078951.2:p.Ile654ArgfsTer6