Canonical Allele Identifier: CA658683926

Gene: PALB2

Linked Data

• ClinVar Variation Id: 492180
• ClinVar RCV Id: RCV000583634
• dbSNP Id: rs1555460426
• MyVariant Identifiers: chr16:g.23641216_23641218del (hg19) ; chr16:g.23629895_23629897del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23629897_23629899del , CM000678.2:g.23629897_23629899del	GRCh38
NC_000016.9:g.23641218_23641220del , CM000678.1:g.23641218_23641220del	GRCh37
NC_000016.8:g.23548719_23548721del	NCBI36
NG_007406.1:g.16461_16463del , LRG_308:g.16461_16463del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.2263_2265del	ENSP00000460666.3:p.Arg755del
ENST00000565038.2:c.212-622_212-620del	ENSP00000459882.2:n.212-622_212-620del
ENST00000566069.6:c.2257_2259del	ENSP00000459237.2:p.Arg753del
ENST00000697377.2:c.2263_2265del	ENSP00000513286.2:p.Arg755del
ENST00000697379.2:c.2263_2265del	ENSP00000513287.2:p.Arg755del
ENST00000561514.2:c.1372_1374del	ENSP00000460666.2:p.Arg458del
ENST00000697374.1:c.1372_1374del	ENSP00000513284.1:p.Arg458del
ENST00000697375.1:n.3604_3606del
ENST00000697376.1:c.1372_1374del	ENSP00000513285.1:p.Arg458del
ENST00000697377.1:c.1372_1374del	ENSP00000513286.1:p.Arg458del
ENST00000697378.1:n.2777_2779del
ENST00000697379.1:c.1372_1374del	ENSP00000513287.1:p.Arg458del
ENST00000697380.1:n.1185_1187del
ENST00000697381.1:n.952_954del
ENST00000697382.1:c.1372_1374del	ENSP00000513288.1:p.Arg458del
ENST00000697383.1:c.49-622_49-620del	ENSP00000513289.1:n.49-622_49-620del
ENST00000697384.1:n.2411_2413del
ENST00000261584.9:c.2257_2259del MANE Select	ENSP00000261584.4:p.Arg753del
ENST00000261584.8:c.2257_2259del	ENSP00000261584.4:p.Arg753del
ENST00000565038.1:c.87-622_87-620del
ENST00000568219.5:c.1372_1374del	ENSP00000454703.2:p.Arg458del
NM_024675.3:c.2257_2259del , LRG_308t1:c.2257_2259del	NP_078951.2:p.Arg753del
XM_011545946.1:c.2263_2265del	XP_011544248.1:p.Arg755del
XM_011545947.1:c.2263_2265del	XP_011544249.1:p.Arg755del
XM_011545948.1:c.1372_1374del	XP_011544250.1:p.Arg458del
XR_950851.1:n.3053_3055del
XM_011545946.2:c.2263_2265del	XP_011544248.1:p.Arg755del
XM_011545947.2:c.2263_2265del	XP_011544249.1:p.Arg755del
XM_011545948.2:c.1372_1374del	XP_011544250.1:p.Arg458del
XM_017023671.1:c.2263_2265del	XP_016879160.1:p.Arg755del
XM_017023672.2:c.2257_2259del	XP_016879161.1:p.Arg753del
XM_017023673.2:c.2257_2259del	XP_016879162.1:p.Arg753del
NM_024675.4:c.2257_2259del MANE Select	NP_078951.2:p.Arg753del