Canonical Allele Identifier: CA2082357771

Gene: B3GLCT

Linked Data

• dbSNP Id: rs1875108968

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.31317583_31317588del , CM000675.2:g.31317583_31317588del	GRCh38
NC_000013.10:g.31891720_31891725del , CM000675.1:g.31891720_31891725del	GRCh37
NC_000013.9:g.30789720_30789725del	NCBI36
NG_011732.1:g.122609_122614del
NG_011732.2:g.122609_122614del

Transcript Alleles

HGVS	Amino-acid change
ENST00000343307.5:c.1082_1087del MANE Select	ENSP00000343002.4:p.His361_Leu362del
ENST00000343307.4:c.1082_1087del	ENSP00000343002.4:p.His361_Leu362del
NM_194318.3:c.1082_1087del	NP_919299.3:p.His361_Leu362del
XM_006719768.2:c.1025_1030del	XP_006719831.1:p.His342_Leu343del
XM_011534936.1:c.1065-6168_1065-6163del	XP_011533238.1:n.1065-6168_1065-6163del
XM_011534937.1:c.962_967del	XP_011533239.1:p.His321_Leu322del
XM_011534938.1:c.935_940del	XP_011533240.1:p.His312_Leu313del
XR_941500.1:n.1267_1272del
XR_941501.1:n.1147_1152del
XM_006719768.3:c.1025_1030del	XP_006719831.1:p.His342_Leu343del
XM_011534938.2:c.935_940del	XP_011533240.1:p.His312_Leu313del
XM_017020395.1:c.935_940del	XP_016875884.1:p.His312_Leu313del
NM_194318.4:c.1082_1087del MANE Select	NP_919299.3:p.His361_Leu362del