Canonical Allele Identifier: CA10605497

Gene: GALC

Linked Data

• ClinVar Variation Id: 286538
• ClinVar RCV Id: RCV000405383 ; RCV000790755
• dbSNP Id: rs886043419
• MyVariant Identifiers: chr14:g.88454819_88454820dup (hg19) ; chr14:g.88454819_88454820insCT (hg19) ; chr14:g.87988475_87988476dup (hg38) ; chr14:g.87988475_87988476insCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87988476_87988477dup , CM000676.2:g.87988476_87988477dup	GRCh38
NC_000014.8:g.88454820_88454821dup , CM000676.1:g.88454820_88454821dup	GRCh37
NC_000014.7:g.87524573_87524574dup	NCBI36
NG_011853.2:g.10088_10089dup
NG_011853.3:g.10088_10089dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.243_244dup MANE Select	ENSP00000261304.2:p.Ile82ArgfsTer18
ENST00000261304.6:c.243_244dup	ENSP00000261304.2:p.Ile82ArgfsTer18
ENST00000393568.8:c.196-269_196-268dup	ENSP00000377198.4:n.196-269_196-268dup
ENST00000393569.6:c.165_166dup	ENSP00000377199.2:p.Ile56ArgfsTer18
ENST00000474294.6:n.233_234dup
ENST00000544807.6:c.75_76dup	ENSP00000437513.2:p.Ile26ArgfsTer18
ENST00000554372.5:c.243_244dup	ENSP00000451884.1:p.Ile82ArgfsTer18
ENST00000554916.5:n.122_123dup
ENST00000555956.1:n.48_49dup
ENST00000556879.5:c.303_304dup	ENSP00000452208.1:n.303_304dup
ENST00000557316.5:c.243_244dup	ENSP00000452314.1:p.Ile82ArgfsTer18
ENST00000622264.4:c.233_234dup
NM_000153.3:c.243_244dup	NP_000144.2:p.Ile82ArgfsTer18
NM_001201401.1:c.196-269_196-268dup	NP_001188330.1:n.196-269_196-268dup
NM_001201402.1:c.165_166dup	NP_001188331.1:p.Ile56ArgfsTer18
XM_011536618.1:c.75_76dup	XP_011534920.1:p.Ile26ArgfsTer18
XM_011536618.2:c.75_76dup	XP_011534920.1:p.Ile26ArgfsTer18
NM_000153.4:c.243_244dup MANE Select	NP_000144.2:p.Ile82ArgfsTer18
NM_001201401.2:c.196-269_196-268dup	NP_001188330.1:n.196-269_196-268dup
NM_001201402.2:c.165_166dup	NP_001188331.1:p.Ile56ArgfsTer18