Canonical Allele Identifier: CA2676747130
Gene: B4GALT7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177604468del , CM000667.2:g.177604468del GRCh38
NC_000005.9:g.177031469del , CM000667.1:g.177031469del GRCh37
NC_000005.8:g.176964075del NCBI36
NG_015977.1:g.9351del

Transcript Alleles

HGVS Amino-acid Change
ENST00000029410.10:c.340del MANE Select ENSP00000029410.5:p.His114ThrfsTer6
ENST00000029410.9:c.340del ENSP00000029410.5:p.His114ThrfsTer6
ENST00000502420.1:n.319del
ENST00000505433.5:c.340del ENSP00000425591.1:p.His114ThrfsTer6
ENST00000505468.1:c.-3del ENSP00000420886.1:n.-3del
ENST00000507061.1:c.157del ENSP00000423868.1:p.His53ThrfsTer6
ENST00000510761.1:c.-3del ENSP00000423438.1:n.-3del
NM_007255.2:c.340del NP_009186.1:p.His114ThrfsTer6
XM_005265805.2:c.-3del XP_005265862.1:n.-3del
XM_006714816.2:c.-160del XP_006714879.1:n.-160del
XM_011534421.1:c.-3del XP_011532723.1:n.-3del
XM_006714816.4:c.-160del XP_006714879.1:n.-160del
XM_017008999.2:c.-3del XP_016864488.1:n.-3del
NM_007255.3:c.340del MANE Select NP_009186.1:p.His114ThrfsTer6