Canonical Allele Identifier: CA2614748842

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68936596-GCTCCATCTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936597_68936605del , CM000673.2:g.68936597_68936605del	GRCh38
NC_000011.9:g.68704065_68704073del , CM000673.1:g.68704065_68704073del	GRCh37
NC_000011.8:g.68460641_68460649del	NCBI36
NG_007976.1:g.37747_37755del , LRG_250:g.37747_37755del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2117_2125del MANE Select	ENSP00000255078.4:p.Ala706_Gln709delinsGlu
ENST00000674675.1:c.361_369del
ENST00000674878.1:c.361_369del
ENST00000674955.1:c.*834_*842del	ENSP00000502463.1:n.*834_*842del
ENST00000675118.1:c.1605_1613del
ENST00000675389.1:n.392_400del
ENST00000675615.1:c.2117_2125del	ENSP00000502413.1:p.Ala706_Gln709delinsGlu
ENST00000675648.1:n.1492_1500del
ENST00000675916.1:c.361_369del
ENST00000676173.1:n.2862_2870del
ENST00000676182.1:c.548_556del
ENST00000676228.1:c.*1440_*1448del	ENSP00000502375.1:n.*1440_*1448del
ENST00000255078.7:c.2117_2125del	ENSP00000255078.3:p.Ala706_Gln709delinsGlu
ENST00000539064.5:n.1876_1884del
ENST00000543739.5:n.1110_1118del
NM_002180.2:c.2117_2125del , LRG_250t1:c.2117_2125del	NP_002171.2:p.Ala706_Gln709delinsGlu
XM_005273974.2:c.1106_1114del	XP_005274031.1:p.Ala369_Gln372delinsGlu
XM_005273975.2:c.989_997del	XP_005274032.1:p.Ala330_Gln333delinsGlu
XM_011544994.1:c.884_892del	XP_011543296.1:p.Ala295_Gln298delinsGlu
XR_949903.1:n.2219_2227del
XM_005273975.3:c.989_997del	XP_005274032.1:p.Ala330_Gln333delinsGlu
XM_017017669.2:c.1106_1114del	XP_016873158.1:p.Ala369_Gln372delinsGlu
XM_017017670.2:c.1106_1114del	XP_016873159.1:p.Ala369_Gln372delinsGlu
XR_949903.3:n.2215_2223del
NM_002180.3:c.2117_2125del MANE Select	NP_002171.2:p.Ala706_Gln709delinsGlu