Canonical Allele Identifier: CA2519310500

Gene: B3GLCT

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.31317597_31317609del , CM000675.2:g.31317597_31317609del	GRCh38
NC_000013.10:g.31891734_31891746del , CM000675.1:g.31891734_31891746del	GRCh37
NC_000013.9:g.30789734_30789746del	NCBI36
NG_011732.1:g.122623_122635del
NG_011732.2:g.122623_122635del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343307.5:c.1096_1108del MANE Select	ENSP00000343002.4:p.Tyr366SerfsTer?
ENST00000343307.4:c.1096_1108del	ENSP00000343002.4:p.Tyr366SerfsTer?
NM_194318.3:c.1096_1108del	NP_919299.3:p.Tyr366SerfsTer?
XM_006719768.2:c.1039_1051del	XP_006719831.1:p.Tyr347SerfsTer?
XM_011534936.1:c.1065-6154_1065-6142del	XP_011533238.1:n.1065-6154_1065-6142del
XM_011534937.1:c.976_988del	XP_011533239.1:p.Tyr326SerfsTer?
XM_011534938.1:c.949_961del	XP_011533240.1:p.Tyr317SerfsTer?
XR_941500.1:n.1281_1293del
XR_941501.1:n.1161_1173del
XM_006719768.3:c.1039_1051del	XP_006719831.1:p.Tyr347SerfsTer?
XM_011534938.2:c.949_961del	XP_011533240.1:p.Tyr317SerfsTer?
XM_017020395.1:c.949_961del	XP_016875884.1:p.Tyr317SerfsTer?
NM_194318.4:c.1096_1108del MANE Select	NP_919299.3:p.Tyr366SerfsTer?