Canonical Allele Identifier: CA621661729

Gene: PALB2

Linked Data

• dbSNP Id: rs1567220962
• gnomAD v2: 16-23646413-GTTAATGAGAGAAGTTTCTGAGAGGTTCTTGAACTTGGTTGTCCTGTGCATGTGCCAGACATCCTAATTTCACTTT-G
• gnomAD v4: 16-23635092-GTTAATGAGAGAAGTTTCTGAGAGGTTCTTGAACTTGGTTGTCCTGTGCATGTGCCAGACATCCTAATTTCACTTT-G
• MyVariant Identifiers: chr16:g.23646414_23646488del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635093_23635167del , CM000678.2:g.23635093_23635167del	GRCh38
NC_000016.9:g.23646414_23646488del , CM000678.1:g.23646414_23646488del	GRCh37
NC_000016.8:g.23553915_23553989del	NCBI36
NG_007406.1:g.11191_11265del , LRG_308:g.11191_11265del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.1385_1459del	ENSP00000460666.3:p.Gln462_Thr487delinsPro
ENST00000565038.2:c.211+2683_211+2757del	ENSP00000459882.2:n.211+2683_211+2757del
ENST00000566069.6:c.1379_1453del	ENSP00000459237.2:p.Gln460_Thr485delinsPro
ENST00000697377.2:c.1385_1459del	ENSP00000513286.2:p.Gln462_Thr487delinsPro
ENST00000697379.2:c.1385_1459del	ENSP00000513287.2:p.Gln462_Thr487delinsPro
ENST00000561514.2:c.494_568del	ENSP00000460666.2:p.Gln165_Thr190delinsPro
ENST00000697374.1:c.494_568del	ENSP00000513284.1:p.Gln165_Thr190delinsPro
ENST00000697375.1:n.2726_2800del
ENST00000697376.1:c.494_568del	ENSP00000513285.1:p.Gln165_Thr190delinsPro
ENST00000697377.1:c.494_568del	ENSP00000513286.1:p.Gln165_Thr190delinsPro
ENST00000697378.1:n.1899_1973del
ENST00000697379.1:c.494_568del	ENSP00000513287.1:p.Gln165_Thr190delinsPro
ENST00000697382.1:c.494_568del	ENSP00000513288.1:p.Gln165_Thr190delinsPro
ENST00000697383.1:c.49-5892_49-5818del	ENSP00000513289.1:n.49-5892_49-5818del
ENST00000697384.1:n.1533_1607del
ENST00000261584.9:c.1379_1453del MANE Select	ENSP00000261584.4:p.Gln460_Thr485delinsPro
ENST00000261584.8:c.1379_1453del	ENSP00000261584.4:p.Gln460_Thr485delinsPro
ENST00000565038.1:c.86+2683_86+2757del
ENST00000568219.5:c.494_568del	ENSP00000454703.2:p.Gln165_Thr190delinsPro
NM_024675.3:c.1379_1453del , LRG_308t1:c.1379_1453del	NP_078951.2:p.Gln460_Thr485delinsPro
XM_011545946.1:c.1385_1459del	XP_011544248.1:p.Gln462_Thr487delinsPro
XM_011545947.1:c.1385_1459del	XP_011544249.1:p.Gln462_Thr487delinsPro
XM_011545948.1:c.494_568del	XP_011544250.1:p.Gln165_Thr190delinsPro
XR_950851.1:n.2175_2249del
XM_011545946.2:c.1385_1459del	XP_011544248.1:p.Gln462_Thr487delinsPro
XM_011545947.2:c.1385_1459del	XP_011544249.1:p.Gln462_Thr487delinsPro
XM_011545948.2:c.494_568del	XP_011544250.1:p.Gln165_Thr190delinsPro
XM_017023671.1:c.1385_1459del	XP_016879160.1:p.Gln462_Thr487delinsPro
XM_017023672.2:c.1379_1453del	XP_016879161.1:p.Gln460_Thr485delinsPro
XM_017023673.2:c.1379_1453del	XP_016879162.1:p.Gln460_Thr485delinsPro
NM_024675.4:c.1379_1453del MANE Select	NP_078951.2:p.Gln460_Thr485delinsPro