Canonical Allele Identifier: CA2614749544

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68933805-GGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933809_68933810del , CM000673.2:g.68933809_68933810del	GRCh38
NC_000011.9:g.68701277_68701278del , CM000673.1:g.68701277_68701278del	GRCh37
NC_000011.8:g.68457853_68457854del	NCBI36
NG_007976.1:g.34959_34960del , LRG_250:g.34959_34960del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1433_1434del MANE Select	ENSP00000255078.4:p.Val478GlyfsTer22
ENST00000674955.1:c.*150_*151del	ENSP00000502463.1:n.*150_*151del
ENST00000675118.1:c.921_922del
ENST00000675205.1:n.183+328_183+329del
ENST00000675615.1:c.1433_1434del	ENSP00000502413.1:p.Val478GlyfsTer22
ENST00000675648.1:n.808_809del
ENST00000675997.1:n.113-655_113-654del
ENST00000676173.1:n.2178_2179del
ENST00000676228.1:c.*756_*757del	ENSP00000502375.1:n.*756_*757del
ENST00000255078.7:c.1433_1434del	ENSP00000255078.3:p.Val478GlyfsTer22
ENST00000537458.5:n.550_551del
ENST00000539064.5:n.1192_1193del
ENST00000541229.5:n.128_129del
ENST00000543739.5:n.550_551del
NM_002180.2:c.1433_1434del , LRG_250t1:c.1433_1434del	NP_002171.2:p.Val478GlyfsTer22
XM_005273974.2:c.422_423del	XP_005274031.1:p.Val141GlyfsTer22
XM_005273975.2:c.305_306del	XP_005274032.1:p.Val102GlyfsTer22
XM_011544994.1:c.200_201del	XP_011543296.1:p.Val67GlyfsTer22
XR_949903.1:n.1535_1536del
XM_005273975.3:c.305_306del	XP_005274032.1:p.Val102GlyfsTer22
XM_017017669.2:c.422_423del	XP_016873158.1:p.Val141GlyfsTer22
XM_017017670.2:c.422_423del	XP_016873159.1:p.Val141GlyfsTer22
XM_017017671.2:c.1433_1434del	XP_016873160.1:p.Val478GlyfsTer22
XR_949903.3:n.1531_1532del
NM_002180.3:c.1433_1434del MANE Select	NP_002171.2:p.Val478GlyfsTer22