Canonical Allele Identifier: CA2580080399

Gene: GALT

Linked Data

• ClinVar Variation Id: 1724719
• ClinVar RCV Id: RCV002309987

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648421_34648422del , CM000671.2:g.34648421_34648422del	GRCh38
NC_000009.11:g.34648418_34648419del , CM000671.1:g.34648418_34648419del	GRCh37
NC_000009.10:g.34638418_34638419del	NCBI36
NG_009029.1:g.6784_6785del
NG_028966.1:g.1237_1238del
NG_009029.2:g.6833_6834del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*240_*241del	ENSP00000509954.1:n.*240_*241del
ENST00000378842.8:c.652_653del MANE Select	ENSP00000368119.4:p.Leu218AsnfsTer19
ENST00000378842.7:c.652_653del	ENSP00000368119.3:p.Leu218AsnfsTer19
ENST00000450095.6:c.325_326del	ENSP00000401956.2:p.Leu109AsnfsTer19
ENST00000472111.5:n.908_909del
ENST00000473506.6:c.*240_*241del	ENSP00000432839.2:n.*240_*241del
ENST00000473529.5:n.811_812del
ENST00000487381.5:n.1037_1038del
ENST00000489643.6:n.427_428del
ENST00000554085.5:c.*396_*397del	ENSP00000450419.1:n.*396_*397del
ENST00000554550.5:c.*272_*273del	ENSP00000451435.1:n.*272_*273del
ENST00000554638.5:n.1124_1125del
ENST00000555020.5:n.808_809del
ENST00000555086.5:n.656_657del
ENST00000555214.5:n.473_474del
ENST00000556244.1:c.639_640del
ENST00000556278.1:c.397_398del	ENSP00000451792.1:p.Leu133AsnfsTer?
ENST00000556494.5:n.773_774del
ENST00000557706.5:n.1214_1215del
NM_000155.3:c.652_653del	NP_000146.2:p.Leu218AsnfsTer19
NM_001258332.1:c.325_326del	NP_001245261.1:p.Leu109AsnfsTer19
NM_000155.4:c.652_653del MANE Select	NP_000146.2:p.Leu218AsnfsTer19
NM_001258332.2:c.325_326del	NP_001245261.1:p.Leu109AsnfsTer19