Canonical Allele Identifier: CA6936654

Gene: B3GLCT

Linked Data

• ClinVar Variation Id: 1192416
• ClinVar RCV Id: RCV001554047 ; RCV001655884
• dbSNP Id: rs3215787
• ExAC: 13:31843320 TA / T
• gnomAD v2: 13-31843320-TA-T
• gnomAD v3: 13-31269183-TA-T
• gnomAD v4: 13-31269183-TA-T
• MyVariant Identifiers: chr13:g.31843321del (hg19) ; chr13:g.31269184del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.31269191del , CM000675.2:g.31269191del	GRCh38
NC_000013.10:g.31843328del , CM000675.1:g.31843328del	GRCh37
NC_000013.9:g.30741328del	NCBI36
NG_011732.1:g.74217del
NG_011732.2:g.74217del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343307.5:c.597-23del MANE Select	ENSP00000343002.4:n.597-23del
ENST00000343307.4:c.597-23del	ENSP00000343002.4:n.597-23del
ENST00000461652.2:n.212-23del
NM_194318.3:c.597-23del	NP_919299.3:n.597-23del
XM_006719768.2:c.540-23del	XP_006719831.1:n.540-23del
XM_011534936.1:c.597-23del	XP_011533238.1:n.597-23del
XM_011534937.1:c.597-23del	XP_011533239.1:n.597-23del
XM_011534938.1:c.450-23del	XP_011533240.1:n.450-23del
XR_941500.1:n.696-23del
XR_941501.1:n.696-23del
XM_006719768.3:c.540-23del	XP_006719831.1:n.540-23del
XM_011534938.2:c.450-23del	XP_011533240.1:n.450-23del
XM_017020395.1:c.450-23del	XP_016875884.1:n.450-23del
NM_194318.4:c.597-23del MANE Select	NP_919299.3:n.597-23del