Canonical Allele Identifier: CA2614750039

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68934027-GGCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68934029_68934031del , CM000673.2:g.68934029_68934031del	GRCh38
NC_000011.9:g.68701497_68701499del , CM000673.1:g.68701497_68701499del	GRCh37
NC_000011.8:g.68458073_68458075del	NCBI36
NG_007976.1:g.35179_35181del , LRG_250:g.35179_35181del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1537+116_1537+118del MANE Select	ENSP00000255078.4:n.1537+116_1537+118del
ENST00000674955.1:c.*254+116_*254+118del	ENSP00000502463.1:n.*254+116_*254+118del
ENST00000675118.1:c.1025+116_1025+118del
ENST00000675205.1:n.184-435_184-433del
ENST00000675615.1:c.1537+116_1537+118del	ENSP00000502413.1:n.1537+116_1537+118del
ENST00000675648.1:n.912+116_912+118del
ENST00000675997.1:n.113-435_113-433del
ENST00000676173.1:n.2282+116_2282+118del
ENST00000676228.1:c.*860+116_*860+118del	ENSP00000502375.1:n.*860+116_*860+118del
ENST00000255078.7:c.1537+116_1537+118del	ENSP00000255078.3:n.1537+116_1537+118del
ENST00000537458.5:n.770_772del
ENST00000539064.5:n.1296+116_1296+118del
ENST00000541229.5:n.232+116_232+118del
ENST00000543739.5:n.654+116_654+118del
NM_002180.2:c.1537+116_1537+118del , LRG_250t1:c.1537+116_1537+118del	NP_002171.2:n.1537+116_1537+118del
XM_005273974.2:c.526+116_526+118del	XP_005274031.1:n.526+116_526+118del
XM_005273975.2:c.409+116_409+118del	XP_005274032.1:n.409+116_409+118del
XM_011544994.1:c.304+116_304+118del	XP_011543296.1:n.304+116_304+118del
XR_949903.1:n.1639+116_1639+118del
XM_005273975.3:c.409+116_409+118del	XP_005274032.1:n.409+116_409+118del
XM_017017669.2:c.526+116_526+118del	XP_016873158.1:n.526+116_526+118del
XM_017017670.2:c.526+116_526+118del	XP_016873159.1:n.526+116_526+118del
XM_017017671.2:c.1537+116_1537+118del	XP_016873160.1:n.1537+116_1537+118del
XR_949903.3:n.1635+116_1635+118del
NM_002180.3:c.1537+116_1537+118del MANE Select	NP_002171.2:n.1537+116_1537+118del