Canonical Allele Identifier: CA5036094

Gene: GALT

Linked Data

• dbSNP Id: rs763389740
• ExAC: 9:34647682 AAAGTCTGCTCGAG / A
• gnomAD v2: 9-34647682-AAAGTCTGCTCGAG-A
• MyVariant Identifiers: chr9:g.34647683_34647695del (hg19) ; chr9:g.34647686_34647698del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647686_34647698del , CM000671.2:g.34647686_34647698del	GRCh38
NC_000009.11:g.34647683_34647695del , CM000671.1:g.34647683_34647695del	GRCh37
NC_000009.10:g.34637683_34637695del	NCBI36
NG_009029.1:g.6049_6061del
NG_028966.1:g.502_514del
NG_009029.2:g.6098_6110del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.328+119_328+131del	ENSP00000509954.1:n.328+119_328+131del
ENST00000378842.8:c.358_370del MANE Select	ENSP00000368119.4:p.Lys120GlufsTer14
ENST00000378842.7:c.358_370del	ENSP00000368119.3:p.Lys120GlufsTer14
ENST00000450095.6:c.51-146_51-134del	ENSP00000401956.2:n.51-146_51-134del
ENST00000465543.6:n.697_709del
ENST00000472111.5:n.488_500del
ENST00000473506.6:c.309_321del	ENSP00000432839.2:p.Leu106Ter
ENST00000473529.5:n.494_506del
ENST00000485531.1:n.673_685del
ENST00000487381.5:n.617_629del
ENST00000489643.6:n.283-429_283-417del
ENST00000554085.5:c.*102_*114del	ENSP00000450419.1:n.*102_*114del
ENST00000554139.5:n.411_423del
ENST00000554330.5:n.395_407del
ENST00000554550.5:c.253-146_253-134del	ENSP00000451435.1:n.253-146_253-134del
ENST00000554638.5:n.704_716del
ENST00000554897.5:c.253-146_253-134del	ENSP00000450942.1:n.253-146_253-134del
ENST00000554944.5:n.428_440del
ENST00000555020.5:n.388_400del
ENST00000555086.5:n.362_374del
ENST00000555214.5:n.262-362_262-350del
ENST00000556157.1:n.482_494del
ENST00000556244.1:c.345_357del
ENST00000556278.1:c.253-429_253-417del	ENSP00000451792.1:n.253-429_253-417del
ENST00000556403.5:n.460_472del
ENST00000556494.5:n.479_491del
ENST00000557541.5:n.502_514del
ENST00000557706.5:n.794_806del
NM_000155.3:c.358_370del	NP_000146.2:p.Lys120GlufsTer14
NM_001258332.1:c.51-146_51-134del	NP_001245261.1:n.51-146_51-134del
NM_000155.4:c.358_370del MANE Select	NP_000146.2:p.Lys120GlufsTer14
NM_001258332.2:c.51-146_51-134del	NP_001245261.1:n.51-146_51-134del