Canonical Allele Identifier: CA2740095446

Gene: GALT

Linked Data

• ClinVar Variation Id: 3064366
• ClinVar RCV Id: RCV003988906

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647133_34647136del , CM000671.2:g.34647133_34647136del	GRCh38
NC_000009.11:g.34647130_34647133del , CM000671.1:g.34647130_34647133del	GRCh37
NC_000009.10:g.34637130_34637133del	NCBI36
NG_009029.1:g.5496_5499del
NG_009029.2:g.5545_5548del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.127_130del	ENSP00000509954.1:p.Leu43CysfsTer6
ENST00000378842.8:c.127_130del MANE Select	ENSP00000368119.4:p.Leu43CysfsTer6
ENST00000378842.7:c.127_130del	ENSP00000368119.3:p.Leu43CysfsTer6
ENST00000450095.6:c.-76_-73del	ENSP00000401956.2:n.-76_-73del
ENST00000465543.6:n.466_469del
ENST00000468099.2:n.167_170del
ENST00000472111.5:n.168_171del
ENST00000473506.6:c.127_130del	ENSP00000432839.2:p.Leu43CysfsTer6
ENST00000473529.5:n.174_177del
ENST00000485531.1:n.120_123del
ENST00000487381.5:n.153_156del
ENST00000489643.6:n.157_160del
ENST00000554085.5:c.127_130del	ENSP00000450419.1:p.Leu43CysfsTer6
ENST00000554139.5:n.180_183del
ENST00000554330.5:n.124_127del
ENST00000554550.5:c.127_130del	ENSP00000451435.1:p.Leu43CysfsTer6
ENST00000554638.5:n.151_154del
ENST00000554897.5:c.127_130del	ENSP00000450942.1:p.Leu43CysfsTer6
ENST00000554944.5:n.157_160del
ENST00000555020.5:n.157_160del
ENST00000555086.5:n.131_134del
ENST00000555214.5:n.136_139del
ENST00000556157.1:n.234_237del
ENST00000556244.1:c.11_14del
ENST00000556278.1:c.127_130del	ENSP00000451792.1:p.Leu43CysfsTer6
ENST00000556403.5:n.140_143del
ENST00000556494.5:n.159_162del
ENST00000557541.5:n.320_323del
ENST00000557706.5:n.241_244del
ENST00000605275.1:n.665_668del
NM_000155.3:c.127_130del	NP_000146.2:p.Leu43CysfsTer6
NM_001258332.1:c.-76_-73del	NP_001245261.1:n.-76_-73del
NM_000155.4:c.127_130del MANE Select	NP_000146.2:p.Leu43CysfsTer6
NM_001258332.2:c.-76_-73del	NP_001245261.1:n.-76_-73del