Canonical Allele Identifier: CA939178506

Gene: IGHMBP2

Linked Data

• gnomAD v3: 11-68915178-T-TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG
• gnomAD v4: 11-68915178-T-TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68915196_68915197insTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT , CM000673.2:g.68915196_68915197insTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT	GRCh38
NC_000011.9:g.68682664_68682665insTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT , CM000673.1:g.68682664_68682665insTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT	GRCh37
NC_000011.8:g.68439240_68439241insTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT	NCBI36
NG_007976.1:g.16346_16347insTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT , LRG_250:g.16346_16347insTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.912+173_912+174insTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT MANE Select	ENSP00000255078.4:n.912+173_912+174insTTTTTTTTTTTTTTTTTTGTTTT...
ENST00000539224.2:c.1041+173_1041+174insTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT
ENST00000674955.1:c.912+173_912+174insTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT	ENSP00000502463.1:n.912+173_912+174insTTTTTTTTTTTTTTTTTTGTTTT...
ENST00000675118.1:c.259+173_259+174insTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT
ENST00000675119.1:c.201+173_201+174insTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT	ENSP00000501861.1:n.201+173_201+174insTTTTTTTTTTTTTTTTTTGTTTT...
ENST00000675305.1:c.201+173_201+174insTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT	ENSP00000502365.1:n.201+173_201+174insTTTTTTTTTTTTTTTTTTGTTTT...
ENST00000675464.1:c.195+179_195+180insTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT	ENSP00000502650.1:n.195+179_195+180insTTTTTTTTTTTTTTTTTTGTTTT...
ENST00000675615.1:c.912+173_912+174insTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT	ENSP00000502413.1:n.912+173_912+174insTTTTTTTTTTTTTTTTTTGTTTT...
ENST00000675683.1:c.299+173_299+174insTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT
ENST00000676173.1:n.956+173_956+174insTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT
ENST00000676228.1:c.*235+173_*235+174insTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT	ENSP00000502375.1:n.*235+173_*235+174insTTTTTTTTTTTTTTTTTTGTT...
ENST00000255078.7:c.912+173_912+174insTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT	ENSP00000255078.3:n.912+173_912+174insTTTTTTTTTTTTTTTTTTGTTTT...
NM_002180.2:c.912+173_912+174insTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT , LRG_250t1:c.912+173_912+174insTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT	NP_002171.2:n.912+173_912+174insTTTTTTTTTTTTTTTTTTGTTTTTTTTTT...
XM_005273974.2:c.-100+173_-100+174insTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT	XP_005274031.1:n.-100+173_-100+174insTTTTTTTTTTTTTTTTTTGTTTTT...
XM_005273976.1:c.912+173_912+174insTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT	XP_005274033.1:n.912+173_912+174insTTTTTTTTTTTTTTTTTTGTTTTTTT...
XR_247198.1:n.1014+173_1014+174insTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT
XR_949903.1:n.1014+173_1014+174insTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT
XM_005273976.2:c.912+173_912+174insTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT	XP_005274033.1:n.912+173_912+174insTTTTTTTTTTTTTTTTTTGTTTTTTT...
XM_017017669.2:c.-100+173_-100+174insTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT	XP_016873158.1:n.-100+173_-100+174insTTTTTTTTTTTTTTTTTTGTTTTT...
XM_017017670.2:c.-100+173_-100+174insTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT	XP_016873159.1:n.-100+173_-100+174insTTTTTTTTTTTTTTTTTTGTTTTT...
XM_017017671.2:c.912+173_912+174insTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT	XP_016873160.1:n.912+173_912+174insTTTTTTTTTTTTTTTTTTGTTTTTTT...
XR_949903.3:n.1010+173_1010+174insTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT
NM_002180.3:c.912+173_912+174insTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTT MANE Select	NP_002171.2:n.912+173_912+174insTTTTTTTTTTTTTTTTTTGTTTTTTTTTT...