Canonical Allele Identifier: CA2082357742

Gene: B3GLCT

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.31317566_31317582delinsTATCTCCAGGCTCCAGC , CM000675.2:g.31317566_31317582delinsTATCTCCAGGCTCCAGC	GRCh38
NC_000013.10:g.31891703_31891719delinsTATCTCCAGGCTCCAGC , CM000675.1:g.31891703_31891719delinsTATCTCCAGGCTCCAGC	GRCh37
NC_000013.9:g.30789703_30789719delinsTATCTCCAGGCTCCAGC	NCBI36
NG_011732.1:g.122592_122608delinsTATCTCCAGGCTCCAGC
NG_011732.2:g.122592_122608delinsTATCTCCAGGCTCCAGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000343307.5:c.1065_1081delinsTATCTCCAGGCTCCAGC MANE Select	ENSP00000343002.4:p.Ser355=
ENST00000343307.4:c.1065_1081delinsTATCTCCAGGCTCCAGC	ENSP00000343002.4:p.Ser355=
NM_194318.3:c.1065_1081delinsTATCTCCAGGCTCCAGC	NP_919299.3:p.Ser355=
XM_006719768.2:c.1008_1024delinsTATCTCCAGGCTCCAGC	XP_006719831.1:p.Ser336=
XM_011534936.1:c.1065-6185_1065-6169delinsTATCTCCAGGCTCCAGC	XP_011533238.1:n.1065-6185_1065-6169delin...
XM_011534937.1:c.945_961delinsTATCTCCAGGCTCCAGC	XP_011533239.1:p.Ser315=
XM_011534938.1:c.918_934delinsTATCTCCAGGCTCCAGC	XP_011533240.1:p.Ser306=
XR_941500.1:n.1250_1266delinsTATCTCCAGGCTCCAGC
XR_941501.1:n.1130_1146delinsTATCTCCAGGCTCCAGC
XM_006719768.3:c.1008_1024delinsTATCTCCAGGCTCCAGC	XP_006719831.1:p.Ser336=
XM_011534938.2:c.918_934delinsTATCTCCAGGCTCCAGC	XP_011533240.1:p.Ser306=
XM_017020395.1:c.918_934delinsTATCTCCAGGCTCCAGC	XP_016875884.1:p.Ser306=
NM_194318.4:c.1065_1081delinsTATCTCCAGGCTCCAGC MANE Select	NP_919299.3:p.Ser355=