Canonical Allele Identifier: CA2584178285
Gene: BSG HGNC NCBI

Linked Data

gnomAD v4: 19-580340-AG-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.580341del , CM000681.2:g.580341del GRCh38
NC_000019.9:g.580341del , CM000681.1:g.580341del GRCh37
NC_000019.8:g.531341del NCBI36
NG_007468.1:g.14017del

Transcript Alleles

HGVS Amino-acid Change
ENST00000333511.9:c.573-38del MANE Select ENSP00000333769.3:n.573-38del
ENST00000346916.9:c.-55-38del ENSP00000344707.4:n.-55-38del
ENST00000353555.9:c.225-38del ENSP00000343809.4:n.225-38del
ENST00000571735.3:n.808-38del
ENST00000572899.6:n.266-38del
ENST00000573784.6:c.-55-38del ENSP00000473393.2:n.-55-38del
ENST00000576925.4:n.972del
ENST00000576984.3:c.-55-38del ENSP00000473528.2:n.-55-38del
ENST00000613627.5:c.68-38del ENSP00000484849.2:n.68-38del
ENST00000618112.4:c.225-38del ENSP00000495088.2:n.225-38del
ENST00000679472.1:c.-55-38del ENSP00000505067.1:n.-55-38del
ENST00000680065.1:c.-55-38del ENSP00000506020.1:n.-55-38del
ENST00000680326.1:c.216-38del ENSP00000505863.1:n.216-38del
ENST00000680552.1:c.225-38del ENSP00000506321.1:n.225-38del
ENST00000333511.7:c.573-38del ENSP00000333769.3:n.573-38del
ENST00000346916.8:c.33-38del ENSP00000344707.3:n.33-38del
ENST00000353555.8:c.225-38del ENSP00000343809.4:n.225-38del
ENST00000545507.6:c.-55-38del ENSP00000473664.1:n.-55-38del
ENST00000571735.2:n.822-38del
ENST00000572899.5:n.266-38del
ENST00000573216.5:c.201-38del ENSP00000458665.1:n.201-38del
ENST00000573784.5:c.-55-38del ENSP00000473393.1:n.-55-38del
ENST00000576984.2:c.-55-38del ENSP00000473528.1:n.-55-38del
ENST00000613627.4:c.216-38del ENSP00000484849.1:n.216-38del
ENST00000614867.2:c.147+762del ENSP00000484624.1:n.147+762del
ENST00000618006.4:c.68-305del ENSP00000478958.1:n.68-305del
NM_001728.3:c.573-38del NP_001719.2:n.573-38del
NM_198589.2:c.225-38del NP_940991.1:n.225-38del
NM_198590.2:c.-55-38del NP_940992.1:n.-55-38del
NM_198591.2:c.33-38del NP_940993.1:n.33-38del
XM_005259619.1:c.225-38del XP_005259676.1:n.225-38del
NM_001322243.1:c.225-38del NP_001309172.1:n.225-38del
XM_017027173.2:c.573-38del XP_016882662.1:n.573-38del
NM_001322243.2:c.225-38del NP_001309172.1:n.225-38del
NM_001728.4:c.573-38del MANE Select NP_001719.2:n.573-38del
NM_198589.3:c.225-38del NP_940991.1:n.225-38del
NM_198590.3:c.-55-38del NP_940992.1:n.-55-38del
NM_198591.3:c.33-38del NP_940993.1:n.33-38del
NM_198591.4:c.-55-38del NP_940993.2:n.-55-38del