Allele Registry

Canonical Allele Identifier: CA273932

Gene: GALC HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr14:g.87965583del

GRCh37 chr14:g.88431927del

Linked Data - Sequence & Population

gnomAD v2:

14:88431926 TA / T

gnomAD v4:

chr14-87965582-TA-T

Joint Max Group AF 2.8e-7 (NFE)

Exomes Max Group AF 3e-7 (NFE)

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000169089

RCV000255073

ClinVar Variation:

188767

dbSNP:

786204454

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87965584del , CM000676.2:g.87965584del	GRCh38
NC_000014.8:g.88431928del , CM000676.1:g.88431928del	GRCh37
NC_000014.7:g.87501681del	NCBI36
NG_011853.2:g.32981del
NG_011853.3:g.32981del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.955del MANE Select	ENSP00000261304.2:p.Tyr319MetfsTer6
ENST00000261304.6:c.955del	ENSP00000261304.2:p.Tyr319MetfsTer6
ENST00000393568.8:c.886del	ENSP00000377198.4:p.Tyr296MetfsTer6
ENST00000393569.6:c.877del	ENSP00000377199.2:p.Tyr293MetfsTer6
ENST00000474294.6:n.945del
ENST00000544807.6:c.787del	ENSP00000437513.2:p.Tyr263MetfsTer6
ENST00000555000.5:c.322del	ENSP00000450472.1:p.Tyr108MetfsTer6
ENST00000557316.5:c.*353del	ENSP00000452314.1:n.*353del
ENST00000557520.1:n.41del
ENST00000622264.4:c.945del
NM_000153.3:c.955del	NP_000144.2:p.Tyr319MetfsTer6
NM_001201401.1:c.886del	NP_001188330.1:p.Tyr296MetfsTer6
NM_001201402.1:c.877del	NP_001188331.1:p.Tyr293MetfsTer6
XM_011536618.1:c.787del	XP_011534920.1:p.Tyr263MetfsTer6
XM_011536618.2:c.787del	XP_011534920.1:p.Tyr263MetfsTer6
NM_000153.4:c.955del MANE Select	NP_000144.2:p.Tyr319MetfsTer6
NM_001201401.2:c.886del	NP_001188330.1:p.Tyr296MetfsTer6
NM_001201402.2:c.877del	NP_001188331.1:p.Tyr293MetfsTer6

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