Canonical Allele Identifier: CA737196565

Gene: C8B

Linked Data

• dbSNP Id: rs1225626918
• gnomAD v3: 1-56956827-AAC-A
• gnomAD v4: 1-56956827-AAC-A
• MyVariant Identifiers: chr1:g.57422501_57422502del (hg19) ; chr1:g.56956828_56956829del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.56956831_56956832del , CM000663.2:g.56956831_56956832del	GRCh38
NC_000001.10:g.57422504_57422505del , CM000663.1:g.57422504_57422505del	GRCh37
NC_000001.9:g.57195092_57195093del	NCBI36
NG_007285.1:g.14187_14188del , LRG_31:g.14187_14188del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000468990.2:c.*172_*173del	ENSP00000512215.1:n.*172_*173del
ENST00000494324.2:c.*436_*437del	ENSP00000512216.1:n.*436_*437del
ENST00000695842.1:c.331_332del	ENSP00000512214.1:p.Val111TyrfsTer12
ENST00000695843.1:c.*172_*173del	ENSP00000512217.1:n.*172_*173del
ENST00000696144.1:c.331_332del	ENSP00000512436.1:p.Val111TyrfsTer12
ENST00000696164.1:c.331_332del	ENSP00000512454.1:p.Val111TyrfsTer12
ENST00000696165.1:c.*172_*173del	ENSP00000512455.1:n.*172_*173del
ENST00000696166.1:c.*172_*173del	ENSP00000512456.1:n.*172_*173del
ENST00000371237.9:c.331_332del MANE Select	ENSP00000360281.4:p.Val111TyrfsTer12
ENST00000371237.8:c.331_332del	ENSP00000360281.4:p.Val111TyrfsTer12
ENST00000535057.5:c.145_146del	ENSP00000440113.1:p.Val49TyrfsTer12
ENST00000543257.5:c.175_176del	ENSP00000442548.1:p.Val59TyrfsTer12
NM_000066.3:c.331_332del	NP_000057.2:p.Val111TyrfsTer12
NM_001278543.1:c.175_176del	NP_001265472.1:p.Val59TyrfsTer12
NM_001278544.1:c.145_146del	NP_001265473.1:p.Val49TyrfsTer12
XM_017002235.1:c.331_332del	XP_016857724.1:p.Val111TyrfsTer12
XR_001737397.1:n.431_432del
NM_000066.4:c.331_332del MANE Select	NP_000057.3:p.Val111TyrfsTer12
NM_001278543.2:c.175_176del	NP_001265472.2:p.Val59TyrfsTer12
NM_001278544.2:c.145_146del	NP_001265473.2:p.Val49TyrfsTer12