Canonical Allele Identifier: CA2580080393

Gene: GALT

Linked Data

• ClinVar Variation Id: 1999214
• ClinVar RCV Id: RCV002815244

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648157del , CM000671.2:g.34648157del	GRCh38
NC_000009.11:g.34648154del , CM000671.1:g.34648154del	GRCh37
NC_000009.10:g.34638154del	NCBI36
NG_009029.1:g.6520del
NG_028966.1:g.973del
NG_009029.2:g.6569del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*138del	ENSP00000509954.1:n.*138del
ENST00000378842.8:c.550del MANE Select	ENSP00000368119.4:p.His184ThrfsTer?
ENST00000378842.7:c.550del	ENSP00000368119.3:p.His184ThrfsTer?
ENST00000450095.6:c.223del	ENSP00000401956.2:p.His75ThrfsTer?
ENST00000465543.6:n.889del
ENST00000472111.5:n.806del
ENST00000473506.6:c.*138del	ENSP00000432839.2:n.*138del
ENST00000473529.5:n.709del
ENST00000485531.1:n.1144del
ENST00000487381.5:n.935del
ENST00000489643.6:n.325del
ENST00000554085.5:c.*294del	ENSP00000450419.1:n.*294del
ENST00000554139.5:n.796del
ENST00000554550.5:c.*170del	ENSP00000451435.1:n.*170del
ENST00000554638.5:n.1022del
ENST00000554897.5:c.*237del	ENSP00000450942.1:n.*237del
ENST00000554944.5:n.899del
ENST00000555020.5:n.706del
ENST00000555086.5:n.554del
ENST00000555214.5:n.371del
ENST00000556244.1:c.537del
ENST00000556278.1:c.295del	ENSP00000451792.1:p.His99ThrfsTer?
ENST00000556494.5:n.671del
ENST00000557706.5:n.1112del
NM_000155.3:c.550del	NP_000146.2:p.His184ThrfsTer?
NM_001258332.1:c.223del	NP_001245261.1:p.His75ThrfsTer?
NM_000155.4:c.550del MANE Select	NP_000146.2:p.His184ThrfsTer?
NM_001258332.2:c.223del	NP_001245261.1:p.His75ThrfsTer?