Canonical Allele Identifier: CA259483
Gene: GALT HGNC NCBI

Linked Data

ClinVar Variation Id: 2180399
ClinVar RCV Id: RCV002602800
dbSNP Id: rs111033838
MyVariant Identifiers: chr9:g.34648790_34648799del (hg19) chr9:g.34648790_34648799delTAGTACTGGT (hg19) chr9:g.34648793_34648802del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648793_34648802del , CM000671.2:g.34648793_34648802del GRCh38
NC_000009.11:g.34648790_34648799del , CM000671.1:g.34648790_34648799del GRCh37
NC_000009.10:g.34638790_34638799del NCBI36
NG_009029.1:g.7156_7165del
NG_028966.1:g.1609_1618del
NG_009029.2:g.7205_7214del

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*307_*316del ENSP00000509954.1:n.*307_*316del
ENST00000378842.8:c.719_728del MANE Select ENSP00000368119.4:p.Leu240SerfsTer25
ENST00000378842.7:c.719_728del ENSP00000368119.3:p.Leu240SerfsTer25
ENST00000450095.6:c.392_401del ENSP00000401956.2:p.Leu131SerfsTer25
ENST00000473506.6:c.*307_*316del ENSP00000432839.2:n.*307_*316del
ENST00000473529.5:n.878_887del
ENST00000487381.5:n.1409_1418del
ENST00000489643.6:n.799_808del
ENST00000554085.5:c.*463_*472del ENSP00000450419.1:n.*463_*472del
ENST00000554550.5:c.*339_*348del ENSP00000451435.1:n.*339_*348del
ENST00000554638.5:n.1191_1200del
ENST00000555020.5:n.1180_1189del
ENST00000555086.5:n.723_732del
ENST00000555754.1:n.64_73del
ENST00000556244.1:c.706_715del
ENST00000556278.1:c.432+337_432+346del ENSP00000451792.1:n.432+337_432+346del
ENST00000557706.5:n.1281_1290del
NM_000155.3:c.719_728del NP_000146.2:p.Leu240SerfsTer25
NM_001258332.1:c.392_401del NP_001245261.1:p.Leu131SerfsTer25
NM_000155.4:c.719_728del MANE Select NP_000146.2:p.Leu240SerfsTer25
NM_001258332.2:c.392_401del NP_001245261.1:p.Leu131SerfsTer25
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