Canonical Allele Identifier: CA918905985

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs1566430030
• gnomAD v3: 11-68914859-AATCTGGTGGAGCGCCTG-A
• gnomAD v4: 11-68914859-AATCTGGTGGAGCGCCTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68914860_68914876del , CM000673.2:g.68914860_68914876del	GRCh38
NC_000011.9:g.68682328_68682344del , CM000673.1:g.68682328_68682344del	GRCh37
NC_000011.8:g.68438904_68438920del	NCBI36
NG_007976.1:g.16010_16026del , LRG_250:g.16010_16026del

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.749_765del MANE Select	ENSP00000255078.4:p.Asn250SerfsTer4
ENST00000539224.2:c.878_894del
ENST00000674955.1:c.749_765del	ENSP00000502463.1:p.Asn250SerfsTer4
ENST00000675118.1:c.96_112del
ENST00000675119.1:c.38_54del	ENSP00000501861.1:p.Asn13SerfsTer4
ENST00000675305.1:c.38_54del	ENSP00000502365.1:p.Asn13SerfsTer4
ENST00000675464.1:c.38_54del	ENSP00000502650.1:p.Asn13SerfsTer4
ENST00000675615.1:c.749_765del	ENSP00000502413.1:p.Asn250SerfsTer4
ENST00000675683.1:c.136_152del
ENST00000676173.1:n.793_809del
ENST00000676228.1:c.*72_*88del	ENSP00000502375.1:n.*72_*88del
ENST00000676239.1:n.63_79del
ENST00000255078.7:c.749_765del	ENSP00000255078.3:p.Asn250SerfsTer4
ENST00000539224.1:c.*72_*88del	ENSP00000440465.1:n.*72_*88del
NM_002180.2:c.749_765del , LRG_250t1:c.749_765del	NP_002171.2:p.Asn250SerfsTer4
XM_005273974.2:c.-263_-247del	XP_005274031.1:n.-263_-247del
XM_005273976.1:c.749_765del	XP_005274033.1:p.Asn250SerfsTer4
XR_247198.1:n.851_867del
XR_949903.1:n.851_867del
XM_005273976.2:c.749_765del	XP_005274033.1:p.Asn250SerfsTer4
XM_017017669.2:c.-263_-247del	XP_016873158.1:n.-263_-247del
XM_017017670.2:c.-263_-247del	XP_016873159.1:n.-263_-247del
XM_017017671.2:c.749_765del	XP_016873160.1:p.Asn250SerfsTer4
XR_949903.3:n.847_863del
NM_002180.3:c.749_765del MANE Select	NP_002171.2:p.Asn250SerfsTer4