Canonical Allele Identifier: CA918905987

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs1594427992
• gnomAD v4: 11-68915115-CCTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68915118_68915120del , CM000673.2:g.68915118_68915120del	GRCh38
NC_000011.9:g.68682586_68682588del , CM000673.1:g.68682586_68682588del	GRCh37
NC_000011.8:g.68439162_68439164del	NCBI36
NG_007976.1:g.16268_16270del , LRG_250:g.16268_16270del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.912+95_912+97del MANE Select	ENSP00000255078.4:n.912+95_912+97del
ENST00000539224.2:c.1041+95_1041+97del
ENST00000674955.1:c.912+95_912+97del	ENSP00000502463.1:n.912+95_912+97del
ENST00000675118.1:c.259+95_259+97del
ENST00000675119.1:c.201+95_201+97del	ENSP00000501861.1:n.201+95_201+97del
ENST00000675305.1:c.201+95_201+97del	ENSP00000502365.1:n.201+95_201+97del
ENST00000675464.1:c.195+101_195+103del	ENSP00000502650.1:n.195+101_195+103del
ENST00000675615.1:c.912+95_912+97del	ENSP00000502413.1:n.912+95_912+97del
ENST00000675683.1:c.299+95_299+97del
ENST00000676173.1:n.956+95_956+97del
ENST00000676228.1:c.*235+95_*235+97del	ENSP00000502375.1:n.*235+95_*235+97del
ENST00000255078.7:c.912+95_912+97del	ENSP00000255078.3:n.912+95_912+97del
NM_002180.2:c.912+95_912+97del , LRG_250t1:c.912+95_912+97del	NP_002171.2:n.912+95_912+97del
XM_005273974.2:c.-100+95_-100+97del	XP_005274031.1:n.-100+95_-100+97del
XM_005273976.1:c.912+95_912+97del	XP_005274033.1:n.912+95_912+97del
XR_247198.1:n.1014+95_1014+97del
XR_949903.1:n.1014+95_1014+97del
XM_005273976.2:c.912+95_912+97del	XP_005274033.1:n.912+95_912+97del
XM_017017669.2:c.-100+95_-100+97del	XP_016873158.1:n.-100+95_-100+97del
XM_017017670.2:c.-100+95_-100+97del	XP_016873159.1:n.-100+95_-100+97del
XM_017017671.2:c.912+95_912+97del	XP_016873160.1:n.912+95_912+97del
XR_949903.3:n.1010+95_1010+97del
NM_002180.3:c.912+95_912+97del MANE Select	NP_002171.2:n.912+95_912+97del