Canonical Allele Identifier: CA939177831

Gene: IGHMBP2

Linked Data

• gnomAD v3: 11-68915166-C-CTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTT
• gnomAD v4: 11-68915166-C-CTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68915193_68915194insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000673.2:g.68915193_68915194insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh38
NC_000011.9:g.68682661_68682662insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000673.1:g.68682661_68682662insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh37
NC_000011.8:g.68439237_68439238insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NCBI36
NG_007976.1:g.16343_16344insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , LRG_250:g.16343_16344insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.912+170_912+171insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select	ENSP00000255078.4:n.912+170_912+171insGTTTTTTTTTTTTTTTTTTTTTT...
ENST00000539224.2:c.1041+170_1041+171insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000674955.1:c.912+170_912+171insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000502463.1:n.912+170_912+171insGTTTTTTTTTTTTTTTTTTTTTT...
ENST00000675118.1:c.259+170_259+171insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000675119.1:c.201+170_201+171insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000501861.1:n.201+170_201+171insGTTTTTTTTTTTTTTTTTTTTTT...
ENST00000675305.1:c.201+170_201+171insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000502365.1:n.201+170_201+171insGTTTTTTTTTTTTTTTTTTTTTT...
ENST00000675464.1:c.195+176_195+177insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000502650.1:n.195+176_195+177insGTTTTTTTTTTTTTTTTTTTTTT...
ENST00000675615.1:c.912+170_912+171insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000502413.1:n.912+170_912+171insGTTTTTTTTTTTTTTTTTTTTTT...
ENST00000675683.1:c.299+170_299+171insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000676173.1:n.956+170_956+171insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000676228.1:c.*235+170_*235+171insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000502375.1:n.*235+170_*235+171insGTTTTTTTTTTTTTTTTTTTT...
ENST00000255078.7:c.912+170_912+171insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000255078.3:n.912+170_912+171insGTTTTTTTTTTTTTTTTTTTTTT...
NM_002180.2:c.912+170_912+171insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , LRG_250t1:c.912+170_912+171insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_002171.2:n.912+170_912+171insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_005273974.2:c.-100+170_-100+171insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_005274031.1:n.-100+170_-100+171insGTTTTTTTTTTTTTTTTTTTTTTT...
XM_005273976.1:c.912+170_912+171insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_005274033.1:n.912+170_912+171insGTTTTTTTTTTTTTTTTTTTTTTTTT...
XR_247198.1:n.1014+170_1014+171insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
XR_949903.1:n.1014+170_1014+171insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
XM_005273976.2:c.912+170_912+171insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_005274033.1:n.912+170_912+171insGTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_017017669.2:c.-100+170_-100+171insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_016873158.1:n.-100+170_-100+171insGTTTTTTTTTTTTTTTTTTTTTTT...
XM_017017670.2:c.-100+170_-100+171insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_016873159.1:n.-100+170_-100+171insGTTTTTTTTTTTTTTTTTTTTTTT...
XM_017017671.2:c.912+170_912+171insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_016873160.1:n.912+170_912+171insGTTTTTTTTTTTTTTTTTTTTTTTTT...
XR_949903.3:n.1010+170_1010+171insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NM_002180.3:c.912+170_912+171insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select	NP_002171.2:n.912+170_912+171insGTTTTTTTTTTTTTTTTTTTTTTTTTTTT...