Canonical Allele Identifier: CA2580080397

Gene: GALT

Linked Data

• ClinVar Variation Id: 1724794
• ClinVar RCV Id: RCV002310062

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648414_34648415insGAGT , CM000671.2:g.34648414_34648415insGAGT	GRCh38
NC_000009.11:g.34648411_34648412insGAGT , CM000671.1:g.34648411_34648412insGAGT	GRCh37
NC_000009.10:g.34638411_34638412insGAGT	NCBI36
NG_009029.1:g.6777_6778insGAGT
NG_028966.1:g.1230_1231insGAGT
NG_009029.2:g.6826_6827insGAGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*233_*234insGAGT	ENSP00000509954.1:n.*233_*234insGAGT
ENST00000378842.8:c.645_646insGAGT MANE Select	ENSP00000368119.4:p.Pro216GlufsTer23
ENST00000378842.7:c.645_646insGAGT	ENSP00000368119.3:p.Pro216GlufsTer23
ENST00000450095.6:c.318_319insGAGT	ENSP00000401956.2:p.Pro107GlufsTer23
ENST00000472111.5:n.901_902insGAGT
ENST00000473506.6:c.*233_*234insGAGT	ENSP00000432839.2:n.*233_*234insGAGT
ENST00000473529.5:n.804_805insGAGT
ENST00000487381.5:n.1030_1031insGAGT
ENST00000489643.6:n.420_421insGAGT
ENST00000554085.5:c.*389_*390insGAGT	ENSP00000450419.1:n.*389_*390insGAGT
ENST00000554550.5:c.*265_*266insGAGT	ENSP00000451435.1:n.*265_*266insGAGT
ENST00000554638.5:n.1117_1118insGAGT
ENST00000555020.5:n.801_802insGAGT
ENST00000555086.5:n.649_650insGAGT
ENST00000555214.5:n.466_467insGAGT
ENST00000556244.1:c.632_633insGAGT
ENST00000556278.1:c.390_391insGAGT	ENSP00000451792.1:p.Pro131GlufsTer?
ENST00000556494.5:n.766_767insGAGT
ENST00000557706.5:n.1207_1208insGAGT
NM_000155.3:c.645_646insGAGT	NP_000146.2:p.Pro216GlufsTer23
NM_001258332.1:c.318_319insGAGT	NP_001245261.1:p.Pro107GlufsTer23
NM_000155.4:c.645_646insGAGT MANE Select	NP_000146.2:p.Pro216GlufsTer23
NM_001258332.2:c.318_319insGAGT	NP_001245261.1:p.Pro107GlufsTer23