Canonical Allele Identifier: CA7297278

Gene: GALC

Linked Data

• dbSNP Id: rs747048831
• ExAC: 14:88442769 GAT / G
• gnomAD v2: 14-88442769-GAT-G
• gnomAD v4: 14-87976425-GAT-G
• MyVariant Identifiers: chr14:g.88442770_88442771del (hg19) ; chr14:g.87976426_87976427del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976426_87976427del , CM000676.2:g.87976426_87976427del	GRCh38
NC_000014.8:g.88442770_88442771del , CM000676.1:g.88442770_88442771del	GRCh37
NC_000014.7:g.87512523_87512524del	NCBI36
NG_011853.2:g.22137_22138del
NG_011853.3:g.22137_22138del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.683_684del MANE Select	ENSP00000261304.2:p.Asn228ThrfsTer12
ENST00000261304.6:c.683_684del	ENSP00000261304.2:p.Asn228ThrfsTer12
ENST00000393568.8:c.614_615del	ENSP00000377198.4:p.Asn205ThrfsTer12
ENST00000393569.6:c.605_606del	ENSP00000377199.2:p.Asn202ThrfsTer12
ENST00000474294.6:n.673_674del
ENST00000477716.3:n.438_439del
ENST00000544807.6:c.515_516del	ENSP00000437513.2:p.Asn172ThrfsTer12
ENST00000554916.5:n.562_563del
ENST00000555000.5:c.50_51del	ENSP00000450472.1:p.Asn17ThrfsTer12
ENST00000557316.5:c.*81_*82del	ENSP00000452314.1:n.*81_*82del
ENST00000622264.4:c.673_674del
NM_000153.3:c.683_684del	NP_000144.2:p.Asn228ThrfsTer12
NM_001201401.1:c.614_615del	NP_001188330.1:p.Asn205ThrfsTer12
NM_001201402.1:c.605_606del	NP_001188331.1:p.Asn202ThrfsTer12
XM_011536618.1:c.515_516del	XP_011534920.1:p.Asn172ThrfsTer12
XM_011536618.2:c.515_516del	XP_011534920.1:p.Asn172ThrfsTer12
NM_000153.4:c.683_684del MANE Select	NP_000144.2:p.Asn228ThrfsTer12
NM_001201401.2:c.614_615del	NP_001188330.1:p.Asn205ThrfsTer12
NM_001201402.2:c.605_606del	NP_001188331.1:p.Asn202ThrfsTer12