Canonical Allele Identifier: CA658823917

Gene: GALC

Linked Data

• ClinVar Variation Id: 555281
• ClinVar RCV Id: RCV000671072
• dbSNP Id: rs1555383687
• gnomAD v4: 14-87986517-CTTA-C
• MyVariant Identifiers: chr14:g.87986518_87986520del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87986518_87986520del , CM000676.2:g.87986518_87986520del	GRCh38
NC_000014.8:g.88452862_88452864del , CM000676.1:g.88452862_88452864del	GRCh37
NC_000014.7:g.87522615_87522617del	NCBI36
NG_011853.2:g.12044_12046del
NG_011853.3:g.12044_12046del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.411_413del MANE Select	ENSP00000261304.2:p.Lys138del
ENST00000261304.6:c.411_413del	ENSP00000261304.2:p.Lys138del
ENST00000393568.8:c.342_344del	ENSP00000377198.4:p.Lys115del
ENST00000393569.6:c.333_335del	ENSP00000377199.2:p.Lys112del
ENST00000474294.6:n.401_403del
ENST00000544807.6:c.243_245del	ENSP00000437513.2:p.Lys82del
ENST00000554372.5:c.*160_*162del	ENSP00000451884.1:n.*160_*162del
ENST00000554916.5:n.290_292del
ENST00000556261.5:n.112_114del
ENST00000556879.5:c.471_473del	ENSP00000452208.1:n.471_473del
ENST00000557316.5:c.411_413del	ENSP00000452314.1:p.Lys138del
ENST00000622264.4:c.401_403del
NM_000153.3:c.411_413del	NP_000144.2:p.Lys138del
NM_001201401.1:c.342_344del	NP_001188330.1:p.Lys115del
NM_001201402.1:c.333_335del	NP_001188331.1:p.Lys112del
XM_011536618.1:c.243_245del	XP_011534920.1:p.Lys82del
XM_011536618.2:c.243_245del	XP_011534920.1:p.Lys82del
NM_000153.4:c.411_413del MANE Select	NP_000144.2:p.Lys138del
NM_001201401.2:c.342_344del	NP_001188330.1:p.Lys115del
NM_001201402.2:c.333_335del	NP_001188331.1:p.Lys112del