Canonical Allele Identifier: CA2695201553

Gene: GALT

Linked Data

• ClinVar Variation Id: 2675828
• ClinVar RCV Id: RCV003461646

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647171_34647180del , CM000671.2:g.34647171_34647180del	GRCh38
NC_000009.11:g.34647168_34647177del , CM000671.1:g.34647168_34647177del	GRCh37
NC_000009.10:g.34637168_34637177del	NCBI36
NG_009029.1:g.5534_5543del
NG_009029.2:g.5583_5592del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.165_174del	ENSP00000509954.1:p.Gln56ProfsTer4
ENST00000378842.8:c.165_174del MANE Select	ENSP00000368119.4:p.Gln56ProfsTer4
ENST00000378842.7:c.165_174del	ENSP00000368119.3:p.Gln56ProfsTer4
ENST00000450095.6:c.-38_-29del	ENSP00000401956.2:n.-38_-29del
ENST00000465543.6:n.504_513del
ENST00000468099.2:n.205_214del
ENST00000472111.5:n.206_215del
ENST00000473506.6:c.165_174del	ENSP00000432839.2:p.Gln56ProfsTer4
ENST00000473529.5:n.212_221del
ENST00000485531.1:n.158_167del
ENST00000487381.5:n.191_200del
ENST00000489643.6:n.195_204del
ENST00000554085.5:c.165_174del	ENSP00000450419.1:p.Gln56ProfsTer4
ENST00000554139.5:n.218_227del
ENST00000554330.5:n.162_171del
ENST00000554550.5:c.165_174del	ENSP00000451435.1:p.Gln56ProfsTer4
ENST00000554638.5:n.189_198del
ENST00000554897.5:c.165_174del	ENSP00000450942.1:p.Gln56ProfsTer4
ENST00000554944.5:n.195_204del
ENST00000555020.5:n.195_204del
ENST00000555086.5:n.169_178del
ENST00000555214.5:n.174_183del
ENST00000556157.1:n.272_281del
ENST00000556244.1:c.49_58del
ENST00000556278.1:c.165_174del	ENSP00000451792.1:p.Gln56ProfsTer4
ENST00000556403.5:n.178_187del
ENST00000556494.5:n.197_206del
ENST00000557541.5:n.358_367del
ENST00000557706.5:n.279_288del
NM_000155.3:c.165_174del	NP_000146.2:p.Gln56ProfsTer4
NM_001258332.1:c.-38_-29del	NP_001245261.1:n.-38_-29del
NM_000155.4:c.165_174del MANE Select	NP_000146.2:p.Gln56ProfsTer4
NM_001258332.2:c.-38_-29del	NP_001245261.1:n.-38_-29del