Canonical Allele Identifier: CA2588340715
Gene: B3GLCT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.31269183_31269184delinsTA , CM000675.2:g.31269183_31269184delinsTA GRCh38
NC_000013.10:g.31843320_31843321delinsTA , CM000675.1:g.31843320_31843321delinsTA GRCh37
NC_000013.9:g.30741320_30741321delinsTA NCBI36
NG_011732.1:g.74209_74210delinsTA
NG_011732.2:g.74209_74210delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000343307.5:c.597-31_597-30delinsTA MANE Select ENSP00000343002.4:n.597-31_597-30delinsTA
ENST00000343307.4:c.597-31_597-30delinsTA ENSP00000343002.4:n.597-31_597-30delinsTA
ENST00000461652.2:n.212-31_212-30delinsTA
NM_194318.3:c.597-31_597-30delinsTA NP_919299.3:n.597-31_597-30delinsTA
XM_006719768.2:c.540-31_540-30delinsTA XP_006719831.1:n.540-31_540-30delinsTA
XM_011534936.1:c.597-31_597-30delinsTA XP_011533238.1:n.597-31_597-30delinsTA
XM_011534937.1:c.597-31_597-30delinsTA XP_011533239.1:n.597-31_597-30delinsTA
XM_011534938.1:c.450-31_450-30delinsTA XP_011533240.1:n.450-31_450-30delinsTA
XR_941500.1:n.696-31_696-30delinsTA
XR_941501.1:n.696-31_696-30delinsTA
XM_006719768.3:c.540-31_540-30delinsTA XP_006719831.1:n.540-31_540-30delinsTA
XM_011534938.2:c.450-31_450-30delinsTA XP_011533240.1:n.450-31_450-30delinsTA
XM_017020395.1:c.450-31_450-30delinsTA XP_016875884.1:n.450-31_450-30delinsTA
NM_194318.4:c.597-31_597-30delinsTA MANE Select NP_919299.3:n.597-31_597-30delinsTA