Canonical Allele Identifier: CA247891660

Gene: B3GLCT

Linked Data

• dbSNP Id: rs749892401
• gnomAD v4: 13-31317691-T-TATG
• MyVariant Identifiers: chr13:g.31891828_31891829insATG (hg19) ; chr13:g.31317691_31317692insATG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.31317694_31317696dup , CM000675.2:g.31317694_31317696dup	GRCh38
NC_000013.10:g.31891831_31891833dup , CM000675.1:g.31891831_31891833dup	GRCh37
NC_000013.9:g.30789831_30789833dup	NCBI36
NG_011732.1:g.122720_122722dup
NG_011732.2:g.122720_122722dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343307.5:c.1184+9_1184+11dup MANE Select	ENSP00000343002.4:n.1184+9_1184+11dup
ENST00000343307.4:c.1184+9_1184+11dup	ENSP00000343002.4:n.1184+9_1184+11dup
NM_194318.3:c.1184+9_1184+11dup	NP_919299.3:n.1184+9_1184+11dup
XM_006719768.2:c.1127+9_1127+11dup	XP_006719831.1:n.1127+9_1127+11dup
XM_011534936.1:c.1065-6057_1065-6055dup	XP_011533238.1:n.1065-6057_1065-6055dup
XM_011534937.1:c.1064+9_1064+11dup	XP_011533239.1:n.1064+9_1064+11dup
XM_011534938.1:c.1037+9_1037+11dup	XP_011533240.1:n.1037+9_1037+11dup
XM_006719768.3:c.1127+9_1127+11dup	XP_006719831.1:n.1127+9_1127+11dup
XM_011534938.2:c.1037+9_1037+11dup	XP_011533240.1:n.1037+9_1037+11dup
XM_017020395.1:c.1037+9_1037+11dup	XP_016875884.1:n.1037+9_1037+11dup
NM_194318.4:c.1184+9_1184+11dup MANE Select	NP_919299.3:n.1184+9_1184+11dup