Canonical Allele Identifier: CA2584178317

Gene: BSG

Linked Data

• gnomAD v4: 19-580411-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.580411_580412insG , CM000681.2:g.580411_580412insG	GRCh38
NC_000019.9:g.580411_580412insG , CM000681.1:g.580411_580412insG	GRCh37
NC_000019.8:g.531411_531412insG	NCBI36
NG_007468.1:g.14087_14088insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333511.9:c.605_606insG MANE Select	ENSP00000333769.3:p.Cys203LeufsTer?
ENST00000346916.9:c.-23_-22insG	ENSP00000344707.4:n.-23_-22insG
ENST00000353555.9:c.257_258insG	ENSP00000343809.4:p.Cys87LeufsTer?
ENST00000571735.3:n.840_841insG
ENST00000572899.6:n.298_299insG
ENST00000573784.6:c.-23_-22insG	ENSP00000473393.2:n.-23_-22insG
ENST00000576925.4:n.1042_1043insG
ENST00000576984.3:c.-23_-22insG	ENSP00000473528.2:n.-23_-22insG
ENST00000613627.5:c.100_101insG	ENSP00000484849.2:p.Pro34ArgfsTer?
ENST00000618112.4:c.257_258insG	ENSP00000495088.2:p.Cys87LeufsTer?
ENST00000679472.1:c.-23_-22insG	ENSP00000505067.1:n.-23_-22insG
ENST00000680065.1:c.-23_-22insG	ENSP00000506020.1:n.-23_-22insG
ENST00000680326.1:c.248_249insG	ENSP00000505863.1:p.Cys84LeufsTer?
ENST00000680552.1:c.257_258insG	ENSP00000506321.1:p.Cys87LeufsTer?
ENST00000333511.7:c.605_606insG	ENSP00000333769.3:p.Cys203LeufsTer?
ENST00000346916.8:c.65_66insG	ENSP00000344707.3:p.Cys23LeufsTer?
ENST00000353555.8:c.257_258insG	ENSP00000343809.4:p.Cys87LeufsTer?
ENST00000545507.6:c.-23_-22insG	ENSP00000473664.1:n.-23_-22insG
ENST00000571735.2:n.854_855insG
ENST00000572899.5:n.298_299insG
ENST00000573216.5:c.233_234insG	ENSP00000458665.1:p.Cys79LeufsTer?
ENST00000573784.5:c.-23_-22insG	ENSP00000473393.1:n.-23_-22insG
ENST00000576984.2:c.-23_-22insG	ENSP00000473528.1:n.-23_-22insG
ENST00000613627.4:c.248_249insG	ENSP00000484849.1:p.Cys84LeufsTer?
ENST00000614867.2:c.147+832_147+833insG	ENSP00000484624.1:n.147+832_147+833insG
ENST00000618006.4:c.68-235_68-234insG	ENSP00000478958.1:n.68-235_68-234insG
NM_001728.3:c.605_606insG	NP_001719.2:p.Cys203LeufsTer?
NM_198589.2:c.257_258insG	NP_940991.1:p.Cys87LeufsTer?
NM_198590.2:c.-23_-22insG	NP_940992.1:n.-23_-22insG
NM_198591.2:c.65_66insG	NP_940993.1:p.Cys23LeufsTer?
XM_005259619.1:c.257_258insG	XP_005259676.1:p.Cys87LeufsTer?
NM_001322243.1:c.257_258insG	NP_001309172.1:p.Cys87LeufsTer?
XM_017027173.2:c.605_606insG	XP_016882662.1:p.Cys203LeufsTer?
NM_001322243.2:c.257_258insG	NP_001309172.1:p.Cys87LeufsTer?
NM_001728.4:c.605_606insG MANE Select	NP_001719.2:p.Cys203LeufsTer?
NM_198589.3:c.257_258insG	NP_940991.1:p.Cys87LeufsTer?
NM_198590.3:c.-23_-22insG	NP_940992.1:n.-23_-22insG
NM_198591.3:c.65_66insG	NP_940993.1:p.Cys23LeufsTer?
NM_198591.4:c.-23_-22insG	NP_940993.2:n.-23_-22insG