Canonical Allele Identifier: CA917648721
Gene: B4GALT7 HGNC NCBI

Linked Data

dbSNP Id: rs1561814022

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177604247_177604249del , CM000667.2:g.177604247_177604249del GRCh38
NC_000005.9:g.177031248_177031250del , CM000667.1:g.177031248_177031250del GRCh37
NC_000005.8:g.176963854_176963856del NCBI36
NG_015977.1:g.9130_9132del

Transcript Alleles

HGVS Amino-acid Change
ENST00000029410.10:c.119_121del MANE Select ENSP00000029410.5:p.Ser40del
ENST00000029410.9:c.119_121del ENSP00000029410.5:p.Ser40del
ENST00000502420.1:n.130-32_130-30del
ENST00000505433.5:c.119_121del ENSP00000425591.1:p.Ser40del
ENST00000505468.1:c.-224_-222del ENSP00000420886.1:n.-224_-222del
ENST00000510761.1:c.-224_-222del ENSP00000423438.1:n.-224_-222del
NM_007255.2:c.119_121del NP_009186.1:p.Ser40del
XM_005265805.2:c.-224_-222del XP_005265862.1:n.-224_-222del
XM_006714816.2:c.-381_-379del XP_006714879.1:n.-381_-379del
XM_011534421.1:c.-224_-222del XP_011532723.1:n.-224_-222del
XM_006714816.4:c.-381_-379del XP_006714879.1:n.-381_-379del
XM_017008999.2:c.-224_-222del XP_016864488.1:n.-224_-222del
NM_007255.3:c.119_121del MANE Select NP_009186.1:p.Ser40del