Allele Registry

Canonical Allele Identifier: CA16042900

Gene: GALC HGNC NCBI

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr14:g.87947818dupT

GRCh38 chr14:g.87947817_87947818insT

GRCh37 chr14:g.88414162dupT

GRCh37 chr14:g.88414161_88414162insT

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000413526

ClinVar Variation:

373387

dbSNP:

1057518390

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87947818dup , CM000676.2:g.87947818dup	GRCh38
NC_000014.8:g.88414162dup , CM000676.1:g.88414162dup	GRCh37
NC_000014.7:g.87483915dup	NCBI36
NG_011853.2:g.50746dup
NG_011853.3:g.50746dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1399dup MANE Select	ENSP00000261304.2:p.Thr467AsnfsTer25
ENST00000261304.6:c.1399dup	ENSP00000261304.2:p.Thr467AsnfsTer25
ENST00000393568.8:c.1330dup	ENSP00000377198.4:p.Thr444AsnfsTer25
ENST00000393569.6:c.1321dup	ENSP00000377199.2:p.Thr441AsnfsTer25
ENST00000544807.6:c.1231dup	ENSP00000437513.2:p.Thr411AsnfsTer25
ENST00000555000.5:c.766dup	ENSP00000450472.1:p.Thr256AsnfsTer25
ENST00000555179.1:c.116dup
ENST00000557316.5:c.*797dup	ENSP00000452314.1:n.*797dup
NM_000153.3:c.1399dup	NP_000144.2:p.Thr467AsnfsTer25
NM_001201401.1:c.1330dup	NP_001188330.1:p.Thr444AsnfsTer25
NM_001201402.1:c.1321dup	NP_001188331.1:p.Thr441AsnfsTer25
XM_011536618.1:c.1231dup	XP_011534920.1:p.Thr411AsnfsTer25
XM_011536618.2:c.1231dup	XP_011534920.1:p.Thr411AsnfsTer25
NM_000153.4:c.1399dup MANE Select	NP_000144.2:p.Thr467AsnfsTer25
NM_001201401.2:c.1330dup	NP_001188330.1:p.Thr444AsnfsTer25
NM_001201402.2:c.1321dup	NP_001188331.1:p.Thr441AsnfsTer25

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