Canonical Allele Identifier: CA2622574906

Gene: B3GLCT

Linked Data

• gnomAD v4: 13-31269277-GGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.31269278_31269279del , CM000675.2:g.31269278_31269279del	GRCh38
NC_000013.10:g.31843415_31843416del , CM000675.1:g.31843415_31843416del	GRCh37
NC_000013.9:g.30741415_30741416del	NCBI36
NG_011732.1:g.74304_74305del
NG_011732.2:g.74304_74305del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343307.5:c.660+1_660+2del MANE Select	ENSP00000343002.4:n.660+1_660+2del
ENST00000343307.4:c.660+1_660+2del	ENSP00000343002.4:n.660+1_660+2del
ENST00000461652.2:n.275+1_275+2del
NM_194318.3:c.660+1_660+2del	NP_919299.3:n.660+1_660+2del
XM_006719768.2:c.603+1_603+2del	XP_006719831.1:n.603+1_603+2del
XM_011534936.1:c.660+1_660+2del	XP_011533238.1:n.660+1_660+2del
XM_011534937.1:c.660+1_660+2del	XP_011533239.1:n.660+1_660+2del
XM_011534938.1:c.513+1_513+2del	XP_011533240.1:n.513+1_513+2del
XR_941500.1:n.759+1_759+2del
XR_941501.1:n.759+1_759+2del
XM_006719768.3:c.603+1_603+2del	XP_006719831.1:n.603+1_603+2del
XM_011534938.2:c.513+1_513+2del	XP_011533240.1:n.513+1_513+2del
XM_017020395.1:c.513+1_513+2del	XP_016875884.1:n.513+1_513+2del
NM_194318.4:c.660+1_660+2del MANE Select	NP_919299.3:n.660+1_660+2del