Canonical Allele Identifier: CA2576536620

Gene: BSG

Linked Data

• gnomAD v4: 19-580371-G-GGTT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.580373_580375dup , CM000681.2:g.580373_580375dup	GRCh38
NC_000019.9:g.580373_580375dup , CM000681.1:g.580373_580375dup	GRCh37
NC_000019.8:g.531373_531375dup	NCBI36
NG_007468.1:g.14049_14051dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333511.9:c.573-6_573-4dup MANE Select	ENSP00000333769.3:n.573-6_573-4dup
ENST00000346916.9:c.-55-6_-55-4dup	ENSP00000344707.4:n.-55-6_-55-4dup
ENST00000353555.9:c.225-6_225-4dup	ENSP00000343809.4:n.225-6_225-4dup
ENST00000571735.3:n.808-6_808-4dup
ENST00000572899.6:n.266-6_266-4dup
ENST00000573784.6:c.-55-6_-55-4dup	ENSP00000473393.2:n.-55-6_-55-4dup
ENST00000576925.4:n.1004_1006dup
ENST00000576984.3:c.-55-6_-55-4dup	ENSP00000473528.2:n.-55-6_-55-4dup
ENST00000613627.5:c.68-6_68-4dup	ENSP00000484849.2:n.68-6_68-4dup
ENST00000618112.4:c.225-6_225-4dup	ENSP00000495088.2:n.225-6_225-4dup
ENST00000679472.1:c.-55-6_-55-4dup	ENSP00000505067.1:n.-55-6_-55-4dup
ENST00000680065.1:c.-55-6_-55-4dup	ENSP00000506020.1:n.-55-6_-55-4dup
ENST00000680326.1:c.216-6_216-4dup	ENSP00000505863.1:n.216-6_216-4dup
ENST00000680552.1:c.225-6_225-4dup	ENSP00000506321.1:n.225-6_225-4dup
ENST00000333511.7:c.573-6_573-4dup	ENSP00000333769.3:n.573-6_573-4dup
ENST00000346916.8:c.33-6_33-4dup	ENSP00000344707.3:n.33-6_33-4dup
ENST00000353555.8:c.225-6_225-4dup	ENSP00000343809.4:n.225-6_225-4dup
ENST00000545507.6:c.-55-6_-55-4dup	ENSP00000473664.1:n.-55-6_-55-4dup
ENST00000571735.2:n.822-6_822-4dup
ENST00000572899.5:n.266-6_266-4dup
ENST00000573216.5:c.201-6_201-4dup	ENSP00000458665.1:n.201-6_201-4dup
ENST00000573784.5:c.-55-6_-55-4dup	ENSP00000473393.1:n.-55-6_-55-4dup
ENST00000576984.2:c.-55-6_-55-4dup	ENSP00000473528.1:n.-55-6_-55-4dup
ENST00000613627.4:c.216-6_216-4dup	ENSP00000484849.1:n.216-6_216-4dup
ENST00000614867.2:c.147+794_147+796dup	ENSP00000484624.1:n.147+794_147+796dup
ENST00000618006.4:c.68-273_68-271dup	ENSP00000478958.1:n.68-273_68-271dup
NM_001728.3:c.573-6_573-4dup	NP_001719.2:n.573-6_573-4dup
NM_198589.2:c.225-6_225-4dup	NP_940991.1:n.225-6_225-4dup
NM_198590.2:c.-55-6_-55-4dup	NP_940992.1:n.-55-6_-55-4dup
NM_198591.2:c.33-6_33-4dup	NP_940993.1:n.33-6_33-4dup
XM_005259619.1:c.225-6_225-4dup	XP_005259676.1:n.225-6_225-4dup
NM_001322243.1:c.225-6_225-4dup	NP_001309172.1:n.225-6_225-4dup
XM_017027173.2:c.573-6_573-4dup	XP_016882662.1:n.573-6_573-4dup
NM_001322243.2:c.225-6_225-4dup	NP_001309172.1:n.225-6_225-4dup
NM_001728.4:c.573-6_573-4dup MANE Select	NP_001719.2:n.573-6_573-4dup
NM_198589.3:c.225-6_225-4dup	NP_940991.1:n.225-6_225-4dup
NM_198590.3:c.-55-6_-55-4dup	NP_940992.1:n.-55-6_-55-4dup
NM_198591.3:c.33-6_33-4dup	NP_940993.1:n.33-6_33-4dup
NM_198591.4:c.-55-6_-55-4dup	NP_940993.2:n.-55-6_-55-4dup