Canonical Allele Identifier: CA621661726

Gene: PALB2

Linked Data

• dbSNP Id: rs1475631053
• gnomAD v2: 16-23646561-TGACATCC-T
• MyVariant Identifiers: chr16:g.23646562_23646568del (hg19) ; chr16:g.23635241_23635247del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635241_23635247del , CM000678.2:g.23635241_23635247del	GRCh38
NC_000016.9:g.23646562_23646568del , CM000678.1:g.23646562_23646568del	GRCh37
NC_000016.8:g.23554063_23554069del	NCBI36
NG_007406.1:g.11111_11117del , LRG_308:g.11111_11117del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.1305_1311del	ENSP00000460666.3:p.Asp436ArgfsTer16
ENST00000565038.2:c.211+2603_211+2609del	ENSP00000459882.2:n.211+2603_211+2609del
ENST00000566069.6:c.1299_1305del	ENSP00000459237.2:p.Asp434ArgfsTer16
ENST00000697377.2:c.1305_1311del	ENSP00000513286.2:p.Asp436ArgfsTer16
ENST00000697379.2:c.1305_1311del	ENSP00000513287.2:p.Asp436ArgfsTer16
ENST00000561514.2:c.414_420del	ENSP00000460666.2:p.Asp139ArgfsTer16
ENST00000697374.1:c.414_420del	ENSP00000513284.1:p.Asp139ArgfsTer16
ENST00000697375.1:n.2646_2652del
ENST00000697376.1:c.414_420del	ENSP00000513285.1:p.Asp139ArgfsTer16
ENST00000697377.1:c.414_420del	ENSP00000513286.1:p.Asp139ArgfsTer16
ENST00000697378.1:n.1819_1825del
ENST00000697379.1:c.414_420del	ENSP00000513287.1:p.Asp139ArgfsTer16
ENST00000697382.1:c.414_420del	ENSP00000513288.1:p.Asp139ArgfsTer16
ENST00000697383.1:c.48+5863_48+5869del	ENSP00000513289.1:n.48+5863_48+5869del
ENST00000697384.1:n.1453_1459del
ENST00000261584.9:c.1299_1305del MANE Select	ENSP00000261584.4:p.Asp434ArgfsTer16
ENST00000261584.8:c.1299_1305del	ENSP00000261584.4:p.Asp434ArgfsTer16
ENST00000565038.1:c.86+2603_86+2609del
ENST00000568219.5:c.414_420del	ENSP00000454703.2:p.Asp139ArgfsTer16
NM_024675.3:c.1299_1305del , LRG_308t1:c.1299_1305del	NP_078951.2:p.Asp434ArgfsTer16
XM_011545946.1:c.1305_1311del	XP_011544248.1:p.Asp436ArgfsTer16
XM_011545947.1:c.1305_1311del	XP_011544249.1:p.Asp436ArgfsTer16
XM_011545948.1:c.414_420del	XP_011544250.1:p.Asp139ArgfsTer16
XR_950851.1:n.2095_2101del
XM_011545946.2:c.1305_1311del	XP_011544248.1:p.Asp436ArgfsTer16
XM_011545947.2:c.1305_1311del	XP_011544249.1:p.Asp436ArgfsTer16
XM_011545948.2:c.414_420del	XP_011544250.1:p.Asp139ArgfsTer16
XM_017023671.1:c.1305_1311del	XP_016879160.1:p.Asp436ArgfsTer16
XM_017023672.2:c.1299_1305del	XP_016879161.1:p.Asp434ArgfsTer16
XM_017023673.2:c.1299_1305del	XP_016879162.1:p.Asp434ArgfsTer16
NM_024675.4:c.1299_1305del MANE Select	NP_078951.2:p.Asp434ArgfsTer16