Canonical Allele Identifier: CA2614750125

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68934073-CGTTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68934074_68934077del , CM000673.2:g.68934074_68934077del	GRCh38
NC_000011.9:g.68701542_68701545del , CM000673.1:g.68701542_68701545del	GRCh37
NC_000011.8:g.68458118_68458121del	NCBI36
NG_007976.1:g.35224_35227del , LRG_250:g.35224_35227del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1537+161_1537+164del MANE Select	ENSP00000255078.4:n.1537+161_1537+164del
ENST00000674955.1:c.*254+161_*254+164del	ENSP00000502463.1:n.*254+161_*254+164del
ENST00000675118.1:c.1025+161_1025+164del
ENST00000675205.1:n.184-390_184-387del
ENST00000675615.1:c.1537+161_1537+164del	ENSP00000502413.1:n.1537+161_1537+164del
ENST00000675648.1:n.912+161_912+164del
ENST00000675997.1:n.113-390_113-387del
ENST00000676173.1:n.2282+161_2282+164del
ENST00000676228.1:c.*860+161_*860+164del	ENSP00000502375.1:n.*860+161_*860+164del
ENST00000255078.7:c.1537+161_1537+164del	ENSP00000255078.3:n.1537+161_1537+164del
ENST00000539064.5:n.1296+161_1296+164del
ENST00000541229.5:n.232+161_232+164del
ENST00000543739.5:n.654+161_654+164del
NM_002180.2:c.1537+161_1537+164del , LRG_250t1:c.1537+161_1537+164del	NP_002171.2:n.1537+161_1537+164del
XM_005273974.2:c.526+161_526+164del	XP_005274031.1:n.526+161_526+164del
XM_005273975.2:c.409+161_409+164del	XP_005274032.1:n.409+161_409+164del
XM_011544994.1:c.304+161_304+164del	XP_011543296.1:n.304+161_304+164del
XR_949903.1:n.1639+161_1639+164del
XM_005273975.3:c.409+161_409+164del	XP_005274032.1:n.409+161_409+164del
XM_017017669.2:c.526+161_526+164del	XP_016873158.1:n.526+161_526+164del
XM_017017670.2:c.526+161_526+164del	XP_016873159.1:n.526+161_526+164del
XM_017017671.2:c.1537+161_1537+164del	XP_016873160.1:n.1537+161_1537+164del
XR_949903.3:n.1635+161_1635+164del
NM_002180.3:c.1537+161_1537+164del MANE Select	NP_002171.2:n.1537+161_1537+164del