Canonical Allele Identifier: CA2689809635

Gene: GALT

Linked Data

• gnomAD v4: 9-34648880-CTGCTGAGCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648883_34648891del , CM000671.2:g.34648883_34648891del	GRCh38
NC_000009.11:g.34648880_34648888del , CM000671.1:g.34648880_34648888del	GRCh37
NC_000009.10:g.34638880_34638888del	NCBI36
NG_009029.1:g.7246_7254del
NG_028966.1:g.1699_1707del
NG_009029.2:g.7295_7303del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*397_*405del	ENSP00000509954.1:n.*397_*405del
ENST00000378842.8:c.809_817del MANE Select	ENSP00000368119.4:p.Ala270_Arg272del
ENST00000378842.7:c.809_817del	ENSP00000368119.3:p.Ala270_Arg272del
ENST00000450095.6:c.482_490del	ENSP00000401956.2:p.Ala161_Arg163del
ENST00000473506.6:c.*397_*405del	ENSP00000432839.2:n.*397_*405del
ENST00000489643.6:n.889_897del
ENST00000554085.5:c.*553_*561del	ENSP00000450419.1:n.*553_*561del
ENST00000554550.5:c.*429_*437del	ENSP00000451435.1:n.*429_*437del
ENST00000554638.5:n.1281_1289del
ENST00000555020.5:n.1270_1278del
ENST00000555086.5:n.813_821del
ENST00000555754.1:n.154_162del
ENST00000556244.1:c.796_804del
ENST00000556278.1:c.432+427_432+435del	ENSP00000451792.1:n.432+427_432+435del
ENST00000557706.5:n.1371_1379del
NM_000155.3:c.809_817del	NP_000146.2:p.Ala270_Arg272del
NM_001258332.1:c.482_490del	NP_001245261.1:p.Ala161_Arg163del
NM_000155.4:c.809_817del MANE Select	NP_000146.2:p.Ala270_Arg272del
NM_001258332.2:c.482_490del	NP_001245261.1:p.Ala161_Arg163del