Canonical Allele Identifier: CA2598570476

Gene: IGHMBP2

Linked Data

• gnomAD v3: 11-68915167-T-TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG
• gnomAD v4: 11-68915167-T-TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68915196_68915197insTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000673.2:g.68915196_68915197insTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh38
NC_000011.9:g.68682664_68682665insTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000673.1:g.68682664_68682665insTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh37
NC_000011.8:g.68439240_68439241insTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NCBI36
NG_007976.1:g.16346_16347insTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , LRG_250:g.16346_16347insTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

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