Canonical Allele Identifier: CA2575384937

Gene: B3GLCT

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.31269302_31269313del , CM000675.2:g.31269302_31269313del	GRCh38
NC_000013.10:g.31843439_31843450del , CM000675.1:g.31843439_31843450del	GRCh37
NC_000013.9:g.30741439_30741450del	NCBI36
NG_011732.1:g.74328_74339del
NG_011732.2:g.74328_74339del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343307.5:c.660+25_660+36del MANE Select	ENSP00000343002.4:n.660+25_660+36del
ENST00000343307.4:c.660+25_660+36del	ENSP00000343002.4:n.660+25_660+36del
ENST00000461652.2:n.275+25_275+36del
NM_194318.3:c.660+25_660+36del	NP_919299.3:n.660+25_660+36del
XM_006719768.2:c.603+25_603+36del	XP_006719831.1:n.603+25_603+36del
XM_011534936.1:c.660+25_660+36del	XP_011533238.1:n.660+25_660+36del
XM_011534937.1:c.660+25_660+36del	XP_011533239.1:n.660+25_660+36del
XM_011534938.1:c.513+25_513+36del	XP_011533240.1:n.513+25_513+36del
XR_941500.1:n.759+25_759+36del
XR_941501.1:n.759+25_759+36del
XM_006719768.3:c.603+25_603+36del	XP_006719831.1:n.603+25_603+36del
XM_011534938.2:c.513+25_513+36del	XP_011533240.1:n.513+25_513+36del
XM_017020395.1:c.513+25_513+36del	XP_016875884.1:n.513+25_513+36del
NM_194318.4:c.660+25_660+36del MANE Select	NP_919299.3:n.660+25_660+36del