Canonical Allele Identifier: CA2614746223

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68915165-CCTTTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68915166_68915170del , CM000673.2:g.68915166_68915170del	GRCh38
NC_000011.9:g.68682634_68682638del , CM000673.1:g.68682634_68682638del	GRCh37
NC_000011.8:g.68439210_68439214del	NCBI36
NG_007976.1:g.16316_16320del , LRG_250:g.16316_16320del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.912+143_912+147del MANE Select	ENSP00000255078.4:n.912+143_912+147del
ENST00000539224.2:c.1041+143_1041+147del
ENST00000674955.1:c.912+143_912+147del	ENSP00000502463.1:n.912+143_912+147del
ENST00000675118.1:c.259+143_259+147del
ENST00000675119.1:c.201+143_201+147del	ENSP00000501861.1:n.201+143_201+147del
ENST00000675305.1:c.201+143_201+147del	ENSP00000502365.1:n.201+143_201+147del
ENST00000675464.1:c.195+149_195+153del	ENSP00000502650.1:n.195+149_195+153del
ENST00000675615.1:c.912+143_912+147del	ENSP00000502413.1:n.912+143_912+147del
ENST00000675683.1:c.299+143_299+147del
ENST00000676173.1:n.956+143_956+147del
ENST00000676228.1:c.*235+143_*235+147del	ENSP00000502375.1:n.*235+143_*235+147del
ENST00000255078.7:c.912+143_912+147del	ENSP00000255078.3:n.912+143_912+147del
NM_002180.2:c.912+143_912+147del , LRG_250t1:c.912+143_912+147del	NP_002171.2:n.912+143_912+147del
XM_005273974.2:c.-100+143_-100+147del	XP_005274031.1:n.-100+143_-100+147del
XM_005273976.1:c.912+143_912+147del	XP_005274033.1:n.912+143_912+147del
XR_247198.1:n.1014+143_1014+147del
XR_949903.1:n.1014+143_1014+147del
XM_005273976.2:c.912+143_912+147del	XP_005274033.1:n.912+143_912+147del
XM_017017669.2:c.-100+143_-100+147del	XP_016873158.1:n.-100+143_-100+147del
XM_017017670.2:c.-100+143_-100+147del	XP_016873159.1:n.-100+143_-100+147del
XM_017017671.2:c.912+143_912+147del	XP_016873160.1:n.912+143_912+147del
XR_949903.3:n.1010+143_1010+147del
NM_002180.3:c.912+143_912+147del MANE Select	NP_002171.2:n.912+143_912+147del