Canonical Allele Identifier: CA621661730

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1443457
• ClinVar RCV Id: RCV001955611 ; RCV003223742
• dbSNP Id: rs1306677139
• gnomAD v2: 16-23646701-AGAG-A
• gnomAD v4: 16-23635380-AGAG-A
• MyVariant Identifiers: chr16:g.23646702_23646704del (hg19) ; chr16:g.23635381_23635383del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635384_23635386del , CM000678.2:g.23635384_23635386del	GRCh38
NC_000016.9:g.23646705_23646707del , CM000678.1:g.23646705_23646707del	GRCh37
NC_000016.8:g.23554206_23554208del	NCBI36
NG_007406.1:g.10975_10977del , LRG_308:g.10975_10977del

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.1169_1171del	ENSP00000460666.3:p.Pro390del
ENST00000565038.2:c.211+2467_211+2469del	ENSP00000459882.2:n.211+2467_211+2469del
ENST00000566069.6:c.1163_1165del	ENSP00000459237.2:p.Pro388del
ENST00000697377.2:c.1169_1171del	ENSP00000513286.2:p.Pro390del
ENST00000697379.2:c.1169_1171del	ENSP00000513287.2:p.Pro390del
ENST00000561514.2:c.278_280del	ENSP00000460666.2:p.Pro93del
ENST00000697374.1:c.278_280del	ENSP00000513284.1:p.Pro93del
ENST00000697375.1:n.2510_2512del
ENST00000697376.1:c.278_280del	ENSP00000513285.1:p.Pro93del
ENST00000697377.1:c.278_280del	ENSP00000513286.1:p.Pro93del
ENST00000697378.1:n.1683_1685del
ENST00000697379.1:c.278_280del	ENSP00000513287.1:p.Pro93del
ENST00000697382.1:c.278_280del	ENSP00000513288.1:p.Pro93del
ENST00000697383.1:c.48+5727_48+5729del	ENSP00000513289.1:n.48+5727_48+5729del
ENST00000697384.1:n.1317_1319del
ENST00000261584.9:c.1163_1165del MANE Select	ENSP00000261584.4:p.Pro388del
ENST00000261584.8:c.1163_1165del	ENSP00000261584.4:p.Pro388del
ENST00000565038.1:c.86+2467_86+2469del
ENST00000568219.5:c.278_280del	ENSP00000454703.2:p.Pro93del
NM_024675.3:c.1163_1165del , LRG_308t1:c.1163_1165del	NP_078951.2:p.Pro388del
XM_011545946.1:c.1169_1171del	XP_011544248.1:p.Pro390del
XM_011545947.1:c.1169_1171del	XP_011544249.1:p.Pro390del
XM_011545948.1:c.278_280del	XP_011544250.1:p.Pro93del
XR_950851.1:n.1959_1961del
XM_011545946.2:c.1169_1171del	XP_011544248.1:p.Pro390del
XM_011545947.2:c.1169_1171del	XP_011544249.1:p.Pro390del
XM_011545948.2:c.278_280del	XP_011544250.1:p.Pro93del
XM_017023671.1:c.1169_1171del	XP_016879160.1:p.Pro390del
XM_017023672.2:c.1163_1165del	XP_016879161.1:p.Pro388del
XM_017023673.2:c.1163_1165del	XP_016879162.1:p.Pro388del
NM_024675.4:c.1163_1165del MANE Select	NP_078951.2:p.Pro388del