Canonical Allele Identifier: CA2579371408
Gene: GALT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648862_34648864del , CM000671.2:g.34648862_34648864del GRCh38
NC_000009.11:g.34648859_34648861del , CM000671.1:g.34648859_34648861del GRCh37
NC_000009.10:g.34638859_34638861del NCBI36
NG_009029.1:g.7225_7227del
NG_028966.1:g.1678_1680del
NG_009029.2:g.7274_7276del

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*376_*378del ENSP00000509954.1:n.*376_*378del
ENST00000378842.8:c.788_790del MANE Select ENSP00000368119.4:p.Arg263del
ENST00000378842.7:c.788_790del ENSP00000368119.3:p.Arg263del
ENST00000450095.6:c.461_463del ENSP00000401956.2:p.Arg154del
ENST00000473506.6:c.*376_*378del ENSP00000432839.2:n.*376_*378del
ENST00000489643.6:n.868_870del
ENST00000554085.5:c.*532_*534del ENSP00000450419.1:n.*532_*534del
ENST00000554550.5:c.*408_*410del ENSP00000451435.1:n.*408_*410del
ENST00000554638.5:n.1260_1262del
ENST00000555020.5:n.1249_1251del
ENST00000555086.5:n.792_794del
ENST00000555754.1:n.133_135del
ENST00000556244.1:c.775_777del
ENST00000556278.1:c.432+406_432+408del ENSP00000451792.1:n.432+406_432+408del
ENST00000557706.5:n.1350_1352del
NM_000155.3:c.788_790del NP_000146.2:p.Arg263del
NM_001258332.1:c.461_463del NP_001245261.1:p.Arg154del
NM_000155.4:c.788_790del MANE Select NP_000146.2:p.Arg263del
NM_001258332.2:c.461_463del NP_001245261.1:p.Arg154del