Canonical Allele Identifier: CA939177930

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs1858606749
• gnomAD v3: 11-68915166-C-CTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTT
• gnomAD v4: 11-68915166-C-CTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68915190_68915191insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000673.2:g.68915190_68915191insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh38
NC_000011.9:g.68682658_68682659insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000673.1:g.68682658_68682659insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh37
NC_000011.8:g.68439234_68439235insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NCBI36
NG_007976.1:g.16340_16341insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , LRG_250:g.16340_16341insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.912+167_912+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select	ENSP00000255078.4:n.912+167_912+168insGTTTTTTTTTTTTTTTTTTTTTT...
ENST00000539224.2:c.1041+167_1041+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000674955.1:c.912+167_912+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000502463.1:n.912+167_912+168insGTTTTTTTTTTTTTTTTTTTTTT...
ENST00000675118.1:c.259+167_259+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000675119.1:c.201+167_201+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000501861.1:n.201+167_201+168insGTTTTTTTTTTTTTTTTTTTTTT...
ENST00000675305.1:c.201+167_201+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000502365.1:n.201+167_201+168insGTTTTTTTTTTTTTTTTTTTTTT...
ENST00000675464.1:c.195+173_195+174insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000502650.1:n.195+173_195+174insGTTTTTTTTTTTTTTTTTTTTTT...
ENST00000675615.1:c.912+167_912+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000502413.1:n.912+167_912+168insGTTTTTTTTTTTTTTTTTTTTTT...
ENST00000675683.1:c.299+167_299+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000676173.1:n.956+167_956+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000676228.1:c.*235+167_*235+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000502375.1:n.*235+167_*235+168insGTTTTTTTTTTTTTTTTTTTT...
ENST00000255078.7:c.912+167_912+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000255078.3:n.912+167_912+168insGTTTTTTTTTTTTTTTTTTTTTT...
NM_002180.2:c.912+167_912+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , LRG_250t1:c.912+167_912+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_002171.2:n.912+167_912+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_005273974.2:c.-100+167_-100+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_005274031.1:n.-100+167_-100+168insGTTTTTTTTTTTTTTTTTTTTTTT...
XM_005273976.1:c.912+167_912+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_005274033.1:n.912+167_912+168insGTTTTTTTTTTTTTTTTTTTTTTTTT...
XR_247198.1:n.1014+167_1014+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
XR_949903.1:n.1014+167_1014+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
XM_005273976.2:c.912+167_912+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_005274033.1:n.912+167_912+168insGTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_017017669.2:c.-100+167_-100+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_016873158.1:n.-100+167_-100+168insGTTTTTTTTTTTTTTTTTTTTTTT...
XM_017017670.2:c.-100+167_-100+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_016873159.1:n.-100+167_-100+168insGTTTTTTTTTTTTTTTTTTTTTTT...
XM_017017671.2:c.912+167_912+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_016873160.1:n.912+167_912+168insGTTTTTTTTTTTTTTTTTTTTTTTTT...
XR_949903.3:n.1010+167_1010+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NM_002180.3:c.912+167_912+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select	NP_002171.2:n.912+167_912+168insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT...