Canonical Allele Identifier: CA2580616212

Gene: GALT

Linked Data

• ClinVar Variation Id: 1725329
• ClinVar RCV Id: RCV002309013

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648384_34648385del , CM000671.2:g.34648384_34648385del	GRCh38
NC_000009.11:g.34648381_34648382del , CM000671.1:g.34648381_34648382del	GRCh37
NC_000009.10:g.34638381_34638382del	NCBI36
NG_009029.1:g.6747_6748del
NG_028966.1:g.1200_1201del
NG_009029.2:g.6796_6797del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*203_*204del	ENSP00000509954.1:n.*203_*204del
ENST00000378842.8:c.615_616del MANE Select	ENSP00000368119.4:p.Gln206AlafsTer4
ENST00000378842.7:c.615_616del	ENSP00000368119.3:p.Gln206AlafsTer4
ENST00000450095.6:c.288_289del	ENSP00000401956.2:p.Gln97AlafsTer4
ENST00000472111.5:n.871_872del
ENST00000473506.6:c.*203_*204del	ENSP00000432839.2:n.*203_*204del
ENST00000473529.5:n.774_775del
ENST00000487381.5:n.1000_1001del
ENST00000489643.6:n.390_391del
ENST00000554085.5:c.*359_*360del	ENSP00000450419.1:n.*359_*360del
ENST00000554550.5:c.*235_*236del	ENSP00000451435.1:n.*235_*236del
ENST00000554638.5:n.1087_1088del
ENST00000554944.5:n.964_965del
ENST00000555020.5:n.771_772del
ENST00000555086.5:n.619_620del
ENST00000555214.5:n.436_437del
ENST00000556244.1:c.602_603del
ENST00000556278.1:c.360_361del	ENSP00000451792.1:p.Gln121AlafsTer4
ENST00000556494.5:n.736_737del
ENST00000557706.5:n.1177_1178del
NM_000155.3:c.615_616del	NP_000146.2:p.Gln206AlafsTer4
NM_001258332.1:c.288_289del	NP_001245261.1:p.Gln97AlafsTer4
NM_000155.4:c.615_616del MANE Select	NP_000146.2:p.Gln206AlafsTer4
NM_001258332.2:c.288_289del	NP_001245261.1:p.Gln97AlafsTer4