Canonical Allele Identifier: CA2614746229

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68915165-CCTTTTTTTTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68915166_68915175del , CM000673.2:g.68915166_68915175del	GRCh38
NC_000011.9:g.68682634_68682643del , CM000673.1:g.68682634_68682643del	GRCh37
NC_000011.8:g.68439210_68439219del	NCBI36
NG_007976.1:g.16316_16325del , LRG_250:g.16316_16325del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.912+143_912+152del MANE Select	ENSP00000255078.4:n.912+143_912+152del
ENST00000539224.2:c.1041+143_1041+152del
ENST00000674955.1:c.912+143_912+152del	ENSP00000502463.1:n.912+143_912+152del
ENST00000675118.1:c.259+143_259+152del
ENST00000675119.1:c.201+143_201+152del	ENSP00000501861.1:n.201+143_201+152del
ENST00000675305.1:c.201+143_201+152del	ENSP00000502365.1:n.201+143_201+152del
ENST00000675464.1:c.195+149_195+158del	ENSP00000502650.1:n.195+149_195+158del
ENST00000675615.1:c.912+143_912+152del	ENSP00000502413.1:n.912+143_912+152del
ENST00000675683.1:c.299+143_299+152del
ENST00000676173.1:n.956+143_956+152del
ENST00000676228.1:c.*235+143_*235+152del	ENSP00000502375.1:n.*235+143_*235+152del
ENST00000255078.7:c.912+143_912+152del	ENSP00000255078.3:n.912+143_912+152del
NM_002180.2:c.912+143_912+152del , LRG_250t1:c.912+143_912+152del	NP_002171.2:n.912+143_912+152del
XM_005273974.2:c.-100+143_-100+152del	XP_005274031.1:n.-100+143_-100+152del
XM_005273976.1:c.912+143_912+152del	XP_005274033.1:n.912+143_912+152del
XR_247198.1:n.1014+143_1014+152del
XR_949903.1:n.1014+143_1014+152del
XM_005273976.2:c.912+143_912+152del	XP_005274033.1:n.912+143_912+152del
XM_017017669.2:c.-100+143_-100+152del	XP_016873158.1:n.-100+143_-100+152del
XM_017017670.2:c.-100+143_-100+152del	XP_016873159.1:n.-100+143_-100+152del
XM_017017671.2:c.912+143_912+152del	XP_016873160.1:n.912+143_912+152del
XR_949903.3:n.1010+143_1010+152del
NM_002180.3:c.912+143_912+152del MANE Select	NP_002171.2:n.912+143_912+152del