Canonical Allele Identifier: CA658658418

Gene: PALB2

Linked Data

• ClinVar Variation Id: 460908
• ClinVar RCV Id: RCV001644632 ; RCV002404412
• dbSNP Id: rs1060502759
• MyVariant Identifiers: chr16:g.23641768_23641771del (hg19) ; chr16:g.23630447_23630450del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23630448_23630451del , CM000678.2:g.23630448_23630451del	GRCh38
NC_000016.9:g.23641769_23641772del , CM000678.1:g.23641769_23641772del	GRCh37
NC_000016.8:g.23549270_23549273del	NCBI36
NG_007406.1:g.15908_15911del , LRG_308:g.15908_15911del

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.1710_1713del	ENSP00000460666.3:p.Lys571ArgfsTer29
ENST00000565038.2:c.212-1175_212-1172del	ENSP00000459882.2:n.212-1175_212-1172del
ENST00000566069.6:c.1704_1707del	ENSP00000459237.2:p.Lys569ArgfsTer29
ENST00000697377.2:c.1710_1713del	ENSP00000513286.2:p.Lys571ArgfsTer29
ENST00000697379.2:c.1710_1713del	ENSP00000513287.2:p.Lys571ArgfsTer29
ENST00000561514.2:c.819_822del	ENSP00000460666.2:p.Lys274ArgfsTer29
ENST00000697374.1:c.819_822del	ENSP00000513284.1:p.Lys274ArgfsTer29
ENST00000697375.1:n.3051_3054del
ENST00000697376.1:c.819_822del	ENSP00000513285.1:p.Lys274ArgfsTer29
ENST00000697377.1:c.819_822del	ENSP00000513286.1:p.Lys274ArgfsTer29
ENST00000697378.1:n.2224_2227del
ENST00000697379.1:c.819_822del	ENSP00000513287.1:p.Lys274ArgfsTer29
ENST00000697380.1:n.632_635del
ENST00000697381.1:n.399_402del
ENST00000697382.1:c.819_822del	ENSP00000513288.1:p.Lys274ArgfsTer29
ENST00000697383.1:c.49-1175_49-1172del	ENSP00000513289.1:n.49-1175_49-1172del
ENST00000697384.1:n.1858_1861del
ENST00000261584.9:c.1704_1707del MANE Select	ENSP00000261584.4:p.Lys569ArgfsTer29
ENST00000261584.8:c.1704_1707del	ENSP00000261584.4:p.Lys569ArgfsTer29
ENST00000565038.1:c.87-1175_87-1172del
ENST00000568219.5:c.819_822del	ENSP00000454703.2:p.Lys274ArgfsTer29
NM_024675.3:c.1704_1707del , LRG_308t1:c.1704_1707del	NP_078951.2:p.Lys569ArgfsTer29
XM_011545946.1:c.1710_1713del	XP_011544248.1:p.Lys571ArgfsTer29
XM_011545947.1:c.1710_1713del	XP_011544249.1:p.Lys571ArgfsTer29
XM_011545948.1:c.819_822del	XP_011544250.1:p.Lys274ArgfsTer29
XR_950851.1:n.2500_2503del
XM_011545946.2:c.1710_1713del	XP_011544248.1:p.Lys571ArgfsTer29
XM_011545947.2:c.1710_1713del	XP_011544249.1:p.Lys571ArgfsTer29
XM_011545948.2:c.819_822del	XP_011544250.1:p.Lys274ArgfsTer29
XM_017023671.1:c.1710_1713del	XP_016879160.1:p.Lys571ArgfsTer29
XM_017023672.2:c.1704_1707del	XP_016879161.1:p.Lys569ArgfsTer29
XM_017023673.2:c.1704_1707del	XP_016879162.1:p.Lys569ArgfsTer29
NM_024675.4:c.1704_1707del MANE Select	NP_078951.2:p.Lys569ArgfsTer29