Canonical Allele Identifier: CA1305461435

Gene: B3GALT1

Linked Data

• dbSNP Id: rs1696470628

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.167302761_167302764del , CM000664.2:g.167302761_167302764del	GRCh38
NC_000002.11:g.168159271_168159274del , CM000664.1:g.168159271_168159274del	GRCh37
NC_000002.10:g.167867517_167867520del	NCBI36
NG_050644.1:g.14701_14704del

Transcript Alleles

HGVS	Amino-acid change
ENST00000392690.4:c.-511+9427_-511+9430del MANE Select	ENSP00000376456.2:n.-511+9427_-511+9430de...
XM_005246931.2:c.-511+9427_-511+9430del	XP_005246988.1:n.-511+9427_-511+9430del
XM_011512085.1:c.-527+9427_-527+9430del	XP_011510387.1:n.-527+9427_-527+9430del
XM_005246931.3:c.-511+9427_-511+9430del	XP_005246988.1:n.-511+9427_-511+9430del
XM_011512085.2:c.-527+9427_-527+9430del	XP_011510387.1:n.-527+9427_-527+9430del
NM_020981.4:c.-511+9427_-511+9430del MANE Select	NP_066191.1:n.-511+9427_-511+9430del