Canonical Allele Identifier: CA2614749446

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68933691-CCCTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933696_68933699del , CM000673.2:g.68933696_68933699del	GRCh38
NC_000011.9:g.68701164_68701167del , CM000673.1:g.68701164_68701167del	GRCh37
NC_000011.8:g.68457740_68457743del	NCBI36
NG_007976.1:g.34846_34849del , LRG_250:g.34846_34849del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1419-99_1419-96del MANE Select	ENSP00000255078.4:n.1419-99_1419-96del
ENST00000674955.1:c.*136-99_*136-96del	ENSP00000502463.1:n.*136-99_*136-96del
ENST00000675118.1:c.907-99_907-96del
ENST00000675205.1:n.183+215_183+218del
ENST00000675615.1:c.1419-99_1419-96del	ENSP00000502413.1:n.1419-99_1419-96del
ENST00000675648.1:n.794-99_794-96del
ENST00000675997.1:n.113-768_113-765del
ENST00000676173.1:n.2164-99_2164-96del
ENST00000676228.1:c.*742-99_*742-96del	ENSP00000502375.1:n.*742-99_*742-96del
ENST00000255078.7:c.1419-99_1419-96del	ENSP00000255078.3:n.1419-99_1419-96del
ENST00000537458.5:n.536-99_536-96del
ENST00000539064.5:n.1178-99_1178-96del
ENST00000541229.5:n.15_18del
ENST00000543739.5:n.536-99_536-96del
NM_002180.2:c.1419-99_1419-96del , LRG_250t1:c.1419-99_1419-96del	NP_002171.2:n.1419-99_1419-96del
XM_005273974.2:c.408-99_408-96del	XP_005274031.1:n.408-99_408-96del
XM_005273975.2:c.291-99_291-96del	XP_005274032.1:n.291-99_291-96del
XM_011544994.1:c.186-99_186-96del	XP_011543296.1:n.186-99_186-96del
XR_949903.1:n.1521-99_1521-96del
XM_005273975.3:c.291-99_291-96del	XP_005274032.1:n.291-99_291-96del
XM_017017669.2:c.408-99_408-96del	XP_016873158.1:n.408-99_408-96del
XM_017017670.2:c.408-99_408-96del	XP_016873159.1:n.408-99_408-96del
XM_017017671.2:c.1419-99_1419-96del	XP_016873160.1:n.1419-99_1419-96del
XR_949903.3:n.1517-99_1517-96del
NM_002180.3:c.1419-99_1419-96del MANE Select	NP_002171.2:n.1419-99_1419-96del