Canonical Allele Identifier: CA823903320

Gene: MPIG6B

Linked Data

• dbSNP Id: rs1283590950
• gnomAD v3: 6-31723909-G-GCCAC
• gnomAD v4: 6-31723909-G-GCCAC
• MyVariant Identifiers: chr6:g.31691686_31691687insCCAC (hg19) ; chr6:g.31723909_31723910insCCAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31723910_31723913dup , CM000668.2:g.31723910_31723913dup	GRCh38
NC_000006.11:g.31691687_31691690dup , CM000668.1:g.31691687_31691690dup	GRCh37
NC_000006.10:g.31799666_31799669dup	NCBI36
NG_029044.1:g.5567_5570dup
NG_029044.2:g.5567_5570dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000649779.1:c.333_336dup MANE Select	ENSP00000497720.1:p.Glu113ProfsTer?
ENST00000375804.6:c.333_336dup	ENSP00000364962.2:p.Glu113ProfsTer?
ENST00000375805.6:c.333_336dup	ENSP00000364963.2:p.Glu113ProfsTer?
ENST00000375806.2:c.333_336dup	ENSP00000364964.2:p.Glu113ProfsTer?
ENST00000375809.7:c.333_336dup	ENSP00000364967.3:p.Glu113ProfsTer?
ENST00000375810.8:c.333_336dup	ENSP00000364968.4:p.Glu113ProfsTer?
ENST00000375814.7:c.333_336dup	ENSP00000364972.3:p.Glu113ProfsTer?
ENST00000460663.5:n.540_543dup
ENST00000466312.5:n.337_340dup
ENST00000471545.1:n.333_336dup
ENST00000480039.5:c.333_336dup	ENSP00000419306.1:p.Glu113ProfsTer?
ENST00000485548.5:c.268+65_268+68dup	ENSP00000420355.1:n.268+65_268+68dup
NM_025260.3:c.333_336dup	NP_079536.2:p.Glu113ProfsTer?
NM_138272.2:c.333_336dup	NP_612116.1:p.Glu113ProfsTer?
NM_138273.2:c.333_336dup	NP_612117.1:p.Glu113ProfsTer?
NM_138274.2:c.333_336dup	NP_612118.1:p.Glu113ProfsTer?
NM_138275.2:c.333_336dup	NP_612119.1:p.Glu113ProfsTer?
NM_138277.2:c.333_336dup	NP_612121.1:p.Glu113ProfsTer?
XM_011514920.1:c.381_384dup	XP_011513222.1:p.Glu129ProfsTer?
XM_011514921.1:c.381_384dup	XP_011513223.1:p.Glu129ProfsTer?
XM_011514920.2:c.381_384dup	XP_011513222.1:p.Glu129ProfsTer?
XM_011514921.2:c.381_384dup	XP_011513223.1:p.Glu129ProfsTer?
XM_017011330.1:c.381_384dup	XP_016866819.1:p.Glu129ProfsTer?
XM_017011331.1:c.333_336dup	XP_016866820.1:p.Glu113ProfsTer?
XM_017011332.1:c.381_384dup	XP_016866821.1:p.Glu129ProfsTer?
XM_017011333.1:c.381_384dup	XP_016866822.1:p.Glu129ProfsTer?
NM_025260.4:c.333_336dup	NP_079536.2:p.Glu113ProfsTer?
NM_138272.3:c.333_336dup MANE Select	NP_612116.1:p.Glu113ProfsTer?
NM_138273.3:c.333_336dup	NP_612117.1:p.Glu113ProfsTer?
NM_138274.3:c.333_336dup	NP_612118.1:p.Glu113ProfsTer?
NM_138275.3:c.333_336dup	NP_612119.1:p.Glu113ProfsTer?
NM_138277.3:c.333_336dup	NP_612121.1:p.Glu113ProfsTer?