Canonical Allele Identifier: CA2536570917

Gene: B3GALT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.167709271_167709272insTGG , CM000664.2:g.167709271_167709272insTGG	GRCh38
NC_000002.11:g.168565781_168565782insTGG , CM000664.1:g.168565781_168565782insTGG	GRCh37
NC_000002.10:g.168274027_168274028insTGG	NCBI36
NG_050644.1:g.421211_421212insTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392690.4:c.-352+62305_-352+62306insTGG MANE Select	ENSP00000376456.2:n.-352+62305_-352+62306insTGG
XM_005246931.2:c.-352+62305_-352+62306insTGG	XP_005246988.1:n.-352+62305_-352+62306insTGG
XM_011512084.1:c.-352+62305_-352+62306insTGG	XP_011510386.1:n.-352+62305_-352+62306insTGG
XM_011512085.1:c.-368+62305_-368+62306insTGG	XP_011510387.1:n.-368+62305_-368+62306insTGG
XM_005246931.3:c.-352+62305_-352+62306insTGG	XP_005246988.1:n.-352+62305_-352+62306insTGG
XM_011512085.2:c.-368+62305_-368+62306insTGG	XP_011510387.1:n.-368+62305_-368+62306insTGG
NM_020981.4:c.-352+62305_-352+62306insTGG MANE Select	NP_066191.1:n.-352+62305_-352+62306insTGG