Canonical Allele Identifier: CA2578500106
Gene: B4GALT7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177608642_177608643del , CM000667.2:g.177608642_177608643del GRCh38
NC_000005.9:g.177035643_177035644del , CM000667.1:g.177035643_177035644del GRCh37
NC_000005.8:g.176968249_176968250del NCBI36
NG_015977.1:g.13525_13526del

Transcript Alleles

HGVS Amino-acid Change
ENST00000029410.10:c.723+20_723+21del MANE Select ENSP00000029410.5:n.723+20_723+21del
ENST00000029410.9:c.723+20_723+21del ENSP00000029410.5:n.723+20_723+21del
ENST00000505145.1:n.1821+20_1821+21del
ENST00000505433.5:c.*229+20_*229+21del ENSP00000425591.1:n.*229+20_*229+21del
ENST00000515353.1:n.1278_1279del
NM_007255.2:c.723+20_723+21del NP_009186.1:n.723+20_723+21del
XM_005265805.2:c.381+20_381+21del XP_005265862.1:n.381+20_381+21del
XM_006714816.2:c.243+20_243+21del XP_006714879.1:n.243+20_243+21del
XM_011534421.1:c.381+20_381+21del XP_011532723.1:n.381+20_381+21del
XM_006714816.4:c.243+20_243+21del XP_006714879.1:n.243+20_243+21del
XM_017008999.2:c.381+20_381+21del XP_016864488.1:n.381+20_381+21del
NM_007255.3:c.723+20_723+21del MANE Select NP_009186.1:n.723+20_723+21del