Canonical Allele Identifier: CA2622574786

Gene: B3GLCT

Linked Data

• gnomAD v4: 13-31269192-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.31269193del , CM000675.2:g.31269193del	GRCh38
NC_000013.10:g.31843330del , CM000675.1:g.31843330del	GRCh37
NC_000013.9:g.30741330del	NCBI36
NG_011732.1:g.74219del
NG_011732.2:g.74219del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343307.5:c.597-21del MANE Select	ENSP00000343002.4:n.597-21del
ENST00000343307.4:c.597-21del	ENSP00000343002.4:n.597-21del
ENST00000461652.2:n.212-21del
NM_194318.3:c.597-21del	NP_919299.3:n.597-21del
XM_006719768.2:c.540-21del	XP_006719831.1:n.540-21del
XM_011534936.1:c.597-21del	XP_011533238.1:n.597-21del
XM_011534937.1:c.597-21del	XP_011533239.1:n.597-21del
XM_011534938.1:c.450-21del	XP_011533240.1:n.450-21del
XR_941500.1:n.696-21del
XR_941501.1:n.696-21del
XM_006719768.3:c.540-21del	XP_006719831.1:n.540-21del
XM_011534938.2:c.450-21del	XP_011533240.1:n.450-21del
XM_017020395.1:c.450-21del	XP_016875884.1:n.450-21del
NM_194318.4:c.597-21del MANE Select	NP_919299.3:n.597-21del