Canonical Allele Identifier: CA2614746062

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68915120-TCTTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68915124_68915127del , CM000673.2:g.68915124_68915127del	GRCh38
NC_000011.9:g.68682592_68682595del , CM000673.1:g.68682592_68682595del	GRCh37
NC_000011.8:g.68439168_68439171del	NCBI36
NG_007976.1:g.16274_16277del , LRG_250:g.16274_16277del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.912+101_912+104del MANE Select	ENSP00000255078.4:n.912+101_912+104del
ENST00000539224.2:c.1041+101_1041+104del
ENST00000674955.1:c.912+101_912+104del	ENSP00000502463.1:n.912+101_912+104del
ENST00000675118.1:c.259+101_259+104del
ENST00000675119.1:c.201+101_201+104del	ENSP00000501861.1:n.201+101_201+104del
ENST00000675305.1:c.201+101_201+104del	ENSP00000502365.1:n.201+101_201+104del
ENST00000675464.1:c.195+107_195+110del	ENSP00000502650.1:n.195+107_195+110del
ENST00000675615.1:c.912+101_912+104del	ENSP00000502413.1:n.912+101_912+104del
ENST00000675683.1:c.299+101_299+104del
ENST00000676173.1:n.956+101_956+104del
ENST00000676228.1:c.*235+101_*235+104del	ENSP00000502375.1:n.*235+101_*235+104del
ENST00000255078.7:c.912+101_912+104del	ENSP00000255078.3:n.912+101_912+104del
NM_002180.2:c.912+101_912+104del , LRG_250t1:c.912+101_912+104del	NP_002171.2:n.912+101_912+104del
XM_005273974.2:c.-100+101_-100+104del	XP_005274031.1:n.-100+101_-100+104del
XM_005273976.1:c.912+101_912+104del	XP_005274033.1:n.912+101_912+104del
XR_247198.1:n.1014+101_1014+104del
XR_949903.1:n.1014+101_1014+104del
XM_005273976.2:c.912+101_912+104del	XP_005274033.1:n.912+101_912+104del
XM_017017669.2:c.-100+101_-100+104del	XP_016873158.1:n.-100+101_-100+104del
XM_017017670.2:c.-100+101_-100+104del	XP_016873159.1:n.-100+101_-100+104del
XM_017017671.2:c.912+101_912+104del	XP_016873160.1:n.912+101_912+104del
XR_949903.3:n.1010+101_1010+104del
NM_002180.3:c.912+101_912+104del MANE Select	NP_002171.2:n.912+101_912+104del