Canonical Allele Identifier: CA2711047767
Gene: B4GALT7 HGNC NCBI

Linked Data

dbSNP Id: rs2127511560

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177604350_177604351insG , CM000667.2:g.177604350_177604351insG GRCh38
NC_000005.9:g.177031351_177031352insG , CM000667.1:g.177031351_177031352insG GRCh37
NC_000005.8:g.176963957_176963958insG NCBI36
NG_015977.1:g.9233_9234insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000029410.10:c.222_223insG MANE Select ENSP00000029410.5:p.Cys75ValfsTer8
ENST00000029410.9:c.222_223insG ENSP00000029410.5:p.Cys75ValfsTer8
ENST00000502420.1:n.201_202insG
ENST00000505433.5:c.222_223insG ENSP00000425591.1:p.Cys75ValfsTer8
ENST00000505468.1:c.-121_-120insG ENSP00000420886.1:n.-121_-120insG
ENST00000507061.1:c.39_40insG ENSP00000423868.1:p.Cys14ValfsTer8
ENST00000510761.1:c.-121_-120insG ENSP00000423438.1:n.-121_-120insG
NM_007255.2:c.222_223insG NP_009186.1:p.Cys75ValfsTer8
XM_005265805.2:c.-121_-120insG XP_005265862.1:n.-121_-120insG
XM_006714816.2:c.-278_-277insG XP_006714879.1:n.-278_-277insG
XM_011534421.1:c.-121_-120insG XP_011532723.1:n.-121_-120insG
XM_006714816.4:c.-278_-277insG XP_006714879.1:n.-278_-277insG
XM_017008999.2:c.-121_-120insG XP_016864488.1:n.-121_-120insG
NM_007255.3:c.222_223insG MANE Select NP_009186.1:p.Cys75ValfsTer8