Canonical Allele Identifier: CA2614746381

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68908646-GTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68908649_68908650del , CM000673.2:g.68908649_68908650del	GRCh38
NC_000011.9:g.68676117_68676118del , CM000673.1:g.68676117_68676118del	GRCh37
NC_000011.8:g.68432693_68432694del	NCBI36
NG_007976.1:g.9799_9800del , LRG_250:g.9799_9800del

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.547+18_547+19del MANE Select	ENSP00000255078.4:n.547+18_547+19del
ENST00000539224.2:c.510+18_510+19del
ENST00000674583.1:c.510+18_510+19del
ENST00000674955.1:c.547+18_547+19del	ENSP00000502463.1:n.547+18_547+19del
ENST00000675142.1:n.510+18_510+19del
ENST00000675615.1:c.547+18_547+19del	ENSP00000502413.1:n.547+18_547+19del
ENST00000675674.1:n.510+18_510+19del
ENST00000675683.1:c.98+18_98+19del
ENST00000675873.1:c.510+18_510+19del
ENST00000676173.1:n.591+18_591+19del
ENST00000676228.1:c.449+312_449+313del	ENSP00000502375.1:n.449+312_449+313del
ENST00000255078.7:c.547+18_547+19del	ENSP00000255078.3:n.547+18_547+19del
ENST00000539224.1:c.449+312_449+313del	ENSP00000440465.1:n.449+312_449+313del
ENST00000544541.1:c.*287+18_*287+19del	ENSP00000443343.1:n.*287+18_*287+19del
NM_002180.2:c.547+18_547+19del , LRG_250t1:c.547+18_547+19del	NP_002171.2:n.547+18_547+19del
XM_005273974.2:c.-465+18_-465+19del	XP_005274031.1:n.-465+18_-465+19del
XM_005273976.1:c.547+18_547+19del	XP_005274033.1:n.547+18_547+19del
XR_247198.1:n.649+18_649+19del
XR_949903.1:n.649+18_649+19del
XM_005273976.2:c.547+18_547+19del	XP_005274033.1:n.547+18_547+19del
XM_017017669.2:c.-465+312_-465+313del	XP_016873158.1:n.-465+312_-465+313del
XM_017017671.2:c.547+18_547+19del	XP_016873160.1:n.547+18_547+19del
XR_949903.3:n.645+18_645+19del
NM_002180.3:c.547+18_547+19del MANE Select	NP_002171.2:n.547+18_547+19del