Canonical Allele Identifier: CA621335730

Gene: PALB2

Linked Data

• dbSNP Id: rs1329832289
• gnomAD v2: 16-23648877-AGT-A
• gnomAD v3: 16-23637556-AGT-A
• gnomAD v4: 16-23637556-AGT-A
• MyVariant Identifiers: chr16:g.23648878_23648879del (hg19) ; chr16:g.23637557_23637558del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23637557_23637558del , CM000678.2:g.23637557_23637558del	GRCh38
NC_000016.9:g.23648878_23648879del , CM000678.1:g.23648878_23648879del	GRCh37
NC_000016.8:g.23556379_23556380del	NCBI36
NG_007406.1:g.8800_8801del , LRG_308:g.8800_8801del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.217+292_217+293del	ENSP00000460666.3:n.217+292_217+293del
ENST00000565038.2:c.211+292_211+293del	ENSP00000459882.2:n.211+292_211+293del
ENST00000566069.6:c.211+292_211+293del	ENSP00000459237.2:n.211+292_211+293del
ENST00000697377.2:c.217+292_217+293del	ENSP00000513286.2:n.217+292_217+293del
ENST00000697379.2:c.217+292_217+293del	ENSP00000513287.2:n.217+292_217+293del
ENST00000561514.2:c.-675+292_-675+293del	ENSP00000460666.2:n.-675+292_-675+293del
ENST00000697374.1:c.-675+292_-675+293del	ENSP00000513284.1:n.-675+292_-675+293del
ENST00000697375.1:n.1558+292_1558+293del
ENST00000697376.1:c.-675+292_-675+293del	ENSP00000513285.1:n.-675+292_-675+293del
ENST00000697377.1:c.-675+292_-675+293del	ENSP00000513286.1:n.-675+292_-675+293del
ENST00000697378.1:n.731+292_731+293del
ENST00000697379.1:c.-675+292_-675+293del	ENSP00000513287.1:n.-675+292_-675+293del
ENST00000697382.1:c.-675+292_-675+293del	ENSP00000513288.1:n.-675+292_-675+293del
ENST00000697383.1:c.48+3552_48+3553del	ENSP00000513289.1:n.48+3552_48+3553del
ENST00000697384.1:n.365+292_365+293del
ENST00000261584.9:c.211+292_211+293del MANE Select	ENSP00000261584.4:n.211+292_211+293del
ENST00000261584.8:c.211+292_211+293del	ENSP00000261584.4:n.211+292_211+293del
ENST00000561514.1:c.217+292_217+293del	ENSP00000460666.1:n.217+292_217+293del
ENST00000565038.1:c.86+292_86+293del
ENST00000567003.1:n.489+292_489+293del
ENST00000568219.5:c.-675+292_-675+293del	ENSP00000454703.2:n.-675+292_-675+293del
NM_024675.3:c.211+292_211+293del , LRG_308t1:c.211+292_211+293del	NP_078951.2:n.211+292_211+293del
XM_011545946.1:c.217+292_217+293del	XP_011544248.1:n.217+292_217+293del
XM_011545947.1:c.217+292_217+293del	XP_011544249.1:n.217+292_217+293del
XM_011545948.1:c.-675+292_-675+293del	XP_011544250.1:n.-675+292_-675+293del
XR_950851.1:n.1007+292_1007+293del
XM_011545946.2:c.217+292_217+293del	XP_011544248.1:n.217+292_217+293del
XM_011545947.2:c.217+292_217+293del	XP_011544249.1:n.217+292_217+293del
XM_011545948.2:c.-675+292_-675+293del	XP_011544250.1:n.-675+292_-675+293del
XM_017023671.1:c.217+292_217+293del	XP_016879160.1:n.217+292_217+293del
XM_017023672.2:c.211+292_211+293del	XP_016879161.1:n.211+292_211+293del
XM_017023673.2:c.211+292_211+293del	XP_016879162.1:n.211+292_211+293del
NM_024675.4:c.211+292_211+293del MANE Select	NP_078951.2:n.211+292_211+293del