Canonical Allele Identifier: CA6153251

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs770952569
• ExAC: 11:68675647 GGGCAGTC / G
• gnomAD v2: 11-68675647-GGGCAGTC-G
• gnomAD v3: 11-68908179-GGGCAGTC-G
• gnomAD v4: 11-68908179-GGGCAGTC-G
• MyVariant Identifiers: chr11:g.68675648_68675654del (hg19) ; chr11:g.68908180_68908186del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68908180_68908186del , CM000673.2:g.68908180_68908186del	GRCh38
NC_000011.9:g.68675648_68675654del , CM000673.1:g.68675648_68675654del	GRCh37
NC_000011.8:g.68432224_68432230del	NCBI36
NG_007976.1:g.9330_9336del , LRG_250:g.9330_9336del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.292_298del MANE Select	ENSP00000255078.4:p.Gly98SerfsTer7
ENST00000539224.2:c.255_261del
ENST00000674583.1:c.255_261del
ENST00000674597.1:c.103_109del
ENST00000674955.1:c.292_298del	ENSP00000502463.1:p.Gly98SerfsTer7
ENST00000675142.1:n.255_261del
ENST00000675469.1:c.168_174del
ENST00000675615.1:c.292_298del	ENSP00000502413.1:p.Gly98SerfsTer7
ENST00000675674.1:n.255_261del
ENST00000675873.1:c.255_261del
ENST00000676173.1:n.336_342del
ENST00000676228.1:c.292_298del	ENSP00000502375.1:p.Gly98SerfsTer7
ENST00000255078.7:c.292_298del	ENSP00000255078.3:p.Gly98SerfsTer7
ENST00000539224.1:c.292_298del	ENSP00000440465.1:p.Gly98SerfsTer7
ENST00000544541.1:c.*32_*38del	ENSP00000443343.1:n.*32_*38del
ENST00000545146.1:c.*162_*168del	ENSP00000456366.1:n.*162_*168del
NM_002180.2:c.292_298del , LRG_250t1:c.292_298del	NP_002171.2:p.Gly98SerfsTer7
XM_005273974.2:c.-720_-714del	XP_005274031.1:n.-720_-714del
XM_005273976.1:c.292_298del	XP_005274033.1:p.Gly98SerfsTer7
XR_247198.1:n.394_400del
XR_949903.1:n.394_400del
XM_005273976.2:c.292_298del	XP_005274033.1:p.Gly98SerfsTer7
XM_017017669.2:c.-622_-616del	XP_016873158.1:n.-622_-616del
XM_017017671.2:c.292_298del	XP_016873160.1:p.Gly98SerfsTer7
XR_949903.3:n.390_396del
NM_002180.3:c.292_298del MANE Select	NP_002171.2:p.Gly98SerfsTer7