Canonical Allele Identifier: CA7296873
Gene: GALC HGNC NCBI

Linked Data

ClinVar Variation Id: 557290
ClinVar RCV Id: RCV000673412
dbSNP Id: rs777955784
ExAC: 14:88406243 ACTTAC / A
gnomAD v2: 14-88406243-ACTTAC-A
gnomAD v4: 14-87939899-ACTTAC-A
MyVariant Identifiers: chr14:g.88406244_88406248del (hg19) chr14:g.87939900_87939904del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87939904_87939908del , CM000676.2:g.87939904_87939908del GRCh38
NC_000014.8:g.88406248_88406252del , CM000676.1:g.88406248_88406252del GRCh37
NC_000014.7:g.87476001_87476005del NCBI36
NG_011853.2:g.58660_58664del
NG_011853.3:g.58660_58664del

Transcript Alleles

HGVS Amino-acid change
ENST00000261304.7:c.1911+1_1911+5del
ENST00000261304.6:c.1911+1_1911+5del
ENST00000393568.8:c.1842+1_1842+5del
ENST00000393569.6:c.1833+1_1833+5del
ENST00000544807.6:c.1743+1_1743+5del
ENST00000555000.5:c.1278+1_1278+5del
ENST00000555179.1:c.447+1_447+5del
NM_000153.3:c.1911+1_1911+5del
NM_001201401.1:c.1842+1_1842+5del
NM_001201402.1:c.1833+1_1833+5del
XM_011536618.1:c.1743+1_1743+5del
XM_011536618.2:c.1743+1_1743+5del
NM_000153.4:c.1911+1_1911+5del
NM_001201401.2:c.1842+1_1842+5del
NM_001201402.2:c.1833+1_1833+5del
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