Canonical Allele Identifier: CA709662866

Gene: GALC

Linked Data

• dbSNP Id: rs1364584574
• gnomAD v3: 14-87968207-CGCTAACAAGGCAAAATGTTTACAATCATTGAATCTAG-C
• gnomAD v4: 14-87968207-CGCTAACAAGGCAAAATGTTTACAATCATTGAATCTAG-C
• MyVariant Identifiers: chr14:g.88434552_88434588del (hg19) ; chr14:g.87968208_87968244del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87968211_87968247del , CM000676.2:g.87968211_87968247del	GRCh38
NC_000014.8:g.88434555_88434591del , CM000676.1:g.88434555_88434591del	GRCh37
NC_000014.7:g.87504308_87504344del	NCBI36
NG_011853.2:g.30320_30356del
NG_011853.3:g.30320_30356del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.908+91_908+127del MANE Select	ENSP00000261304.2:n.908+91_908+127del
ENST00000261304.6:c.908+91_908+127del	ENSP00000261304.2:n.908+91_908+127del
ENST00000393568.8:c.839+91_839+127del	ENSP00000377198.4:n.839+91_839+127del
ENST00000393569.6:c.830+91_830+127del	ENSP00000377199.2:n.830+91_830+127del
ENST00000474294.6:n.898+91_898+127del
ENST00000544807.6:c.740+91_740+127del	ENSP00000437513.2:n.740+91_740+127del
ENST00000555000.5:c.275+91_275+127del	ENSP00000450472.1:n.275+91_275+127del
ENST00000557316.5:c.*306+91_*306+127del	ENSP00000452314.1:n.*306+91_*306+127del
ENST00000622264.4:c.898+91_898+127del
NM_000153.3:c.908+91_908+127del	NP_000144.2:n.908+91_908+127del
NM_001201401.1:c.839+91_839+127del	NP_001188330.1:n.839+91_839+127del
NM_001201402.1:c.830+91_830+127del	NP_001188331.1:n.830+91_830+127del
XM_011536618.1:c.740+91_740+127del	XP_011534920.1:n.740+91_740+127del
XM_011536618.2:c.740+91_740+127del	XP_011534920.1:n.740+91_740+127del
NM_000153.4:c.908+91_908+127del MANE Select	NP_000144.2:n.908+91_908+127del
NM_001201401.2:c.839+91_839+127del	NP_001188330.1:n.839+91_839+127del
NM_001201402.2:c.830+91_830+127del	NP_001188331.1:n.830+91_830+127del