Canonical Allele Identifier: CA939178579

Gene: IGHMBP2

Linked Data

• gnomAD v3: 11-68915192-T-TTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTG
• gnomAD v4: 11-68915192-T-TTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68915196_68915197insTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTGTTTT , CM000673.2:g.68915196_68915197insTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTGTTTT	GRCh38
NC_000011.9:g.68682664_68682665insTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTGTTTT , CM000673.1:g.68682664_68682665insTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTGTTTT	GRCh37
NC_000011.8:g.68439240_68439241insTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTGTTTT	NCBI36
NG_007976.1:g.16346_16347insTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTGTTTT , LRG_250:g.16346_16347insTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTGTTTT

Transcript Alleles

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