Canonical Allele Identifier: CA2584178316

Gene: BSG

Linked Data

• gnomAD v4: 19-580405-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.580406del , CM000681.2:g.580406del	GRCh38
NC_000019.9:g.580406del , CM000681.1:g.580406del	GRCh37
NC_000019.8:g.531406del	NCBI36
NG_007468.1:g.14082del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333511.9:c.600del MANE Select	ENSP00000333769.3:p.Glu200AspfsTer24
ENST00000346916.9:c.-28del	ENSP00000344707.4:n.-28del
ENST00000353555.9:c.252del	ENSP00000343809.4:p.Glu84AspfsTer24
ENST00000571735.3:n.835del
ENST00000572899.6:n.293del
ENST00000573784.6:c.-28del	ENSP00000473393.2:n.-28del
ENST00000576925.4:n.1037del
ENST00000576984.3:c.-28del	ENSP00000473528.2:n.-28del
ENST00000613627.5:c.95del	ENSP00000484849.2:p.Ser32IlefsTer?
ENST00000618112.4:c.252del	ENSP00000495088.2:p.Glu84AspfsTer?
ENST00000679472.1:c.-28del	ENSP00000505067.1:n.-28del
ENST00000680065.1:c.-28del	ENSP00000506020.1:n.-28del
ENST00000680326.1:c.243del	ENSP00000505863.1:p.Glu81AspfsTer24
ENST00000680552.1:c.252del	ENSP00000506321.1:p.Glu84AspfsTer24
ENST00000333511.7:c.600del	ENSP00000333769.3:p.Glu200AspfsTer24
ENST00000346916.8:c.60del	ENSP00000344707.3:p.Glu20AspfsTer24
ENST00000353555.8:c.252del	ENSP00000343809.4:p.Glu84AspfsTer24
ENST00000545507.6:c.-28del	ENSP00000473664.1:n.-28del
ENST00000571735.2:n.849del
ENST00000572899.5:n.293del
ENST00000573216.5:c.228del	ENSP00000458665.1:p.Glu76AspfsTer24
ENST00000573784.5:c.-28del	ENSP00000473393.1:n.-28del
ENST00000576984.2:c.-28del	ENSP00000473528.1:n.-28del
ENST00000613627.4:c.243del	ENSP00000484849.1:p.Glu81AspfsTer24
ENST00000614867.2:c.147+827del	ENSP00000484624.1:n.147+827del
ENST00000618006.4:c.68-240del	ENSP00000478958.1:n.68-240del
NM_001728.3:c.600del	NP_001719.2:p.Glu200AspfsTer24
NM_198589.2:c.252del	NP_940991.1:p.Glu84AspfsTer24
NM_198590.2:c.-28del	NP_940992.1:n.-28del
NM_198591.2:c.60del	NP_940993.1:p.Glu20AspfsTer24
XM_005259619.1:c.252del	XP_005259676.1:p.Glu84AspfsTer24
NM_001322243.1:c.252del	NP_001309172.1:p.Glu84AspfsTer24
XM_017027173.2:c.600del	XP_016882662.1:p.Glu200AspfsTer24
NM_001322243.2:c.252del	NP_001309172.1:p.Glu84AspfsTer24
NM_001728.4:c.600del MANE Select	NP_001719.2:p.Glu200AspfsTer24
NM_198589.3:c.252del	NP_940991.1:p.Glu84AspfsTer24
NM_198590.3:c.-28del	NP_940992.1:n.-28del
NM_198591.3:c.60del	NP_940993.1:p.Glu20AspfsTer24
NM_198591.4:c.-28del	NP_940993.2:n.-28del