Canonical Allele Identifier: CA118071

Gene: BCL10

Linked Data

• ClinVar Variation Id: 6250
• ClinVar RCV Id: RCV000006628 ; RCV000023306 ; RCV000023307
• dbSNP Id: rs387906350
• gnomAD v4: 1-85267829-G-GA
• MyVariant Identifiers: chr1:g.85733512_85733513insA (hg19) ; chr1:g.85267829_85267830insA (hg38)
• PubMed: PMID:9989495 ; PMID:10380920 ; PMID:10408400

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.85267836dup , CM000663.2:g.85267836dup	GRCh38
NC_000001.10:g.85733519dup , CM000663.1:g.85733519dup	GRCh37
NC_000001.9:g.85506107dup	NCBI36
NG_012216.1:g.15071dup
NG_012216.2:g.14075dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620248.3:c.466dup	ENSP00000480561.2:p.Ser156PhefsTer3
ENST00000620248.2:c.466dup	ENSP00000480561.2:p.Ser156PhefsTer3
ENST00000648566.1:c.499dup MANE Select	ENSP00000498104.1:p.Ser167PhefsTer3
ENST00000650582.1:n.1030dup
ENST00000370580.5:c.499dup	ENSP00000359612.1:p.Ser167PhefsTer3
ENST00000620248.1:c.464dup
NM_003921.4:c.499dup	NP_003912.1:p.Ser167PhefsTer3
XM_005271311.2:c.466dup	XP_005271368.1:p.Ser156PhefsTer3
XM_011542397.1:c.658dup	XP_011540699.1:p.Ser220PhefsTer3
XM_011542398.1:c.625dup	XP_011540700.1:p.Ser209PhefsTer3
XM_011542399.1:c.445dup	XP_011540701.1:p.Ser149PhefsTer3
NM_001320715.1:c.466dup	NP_001307644.1:p.Ser156PhefsTer3
NM_003921.5:c.499dup MANE Select	NP_003912.1:p.Ser167PhefsTer3
XM_011542397.3:c.658dup	XP_011540699.1:p.Ser220PhefsTer3
XM_011542398.2:c.625dup	XP_011540700.1:p.Ser209PhefsTer3
XM_011542399.2:c.445dup	XP_011540701.1:p.Ser149PhefsTer3
NM_001320715.2:c.466dup	NP_001307644.1:p.Ser156PhefsTer3