Canonical Allele Identifier: CA2153350296

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87934696_87934697delinsGA , CM000676.2:g.87934696_87934697delinsGA	GRCh38
NC_000014.8:g.88401040_88401041delinsGA , CM000676.1:g.88401040_88401041delinsGA	GRCh37
NC_000014.7:g.87470793_87470794delinsGA	NCBI36
NG_011853.2:g.63867_63868delinsTC
NG_011853.3:g.63867_63868delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.*35_*36delinsTC MANE Select	ENSP00000261304.2:n.*35_*36delinsTC
ENST00000261304.6:c.*35_*36delinsTC	ENSP00000261304.2:n.*35_*36delinsTC
ENST00000393568.8:c.*35_*36delinsTC	ENSP00000377198.4:n.*35_*36delinsTC
ENST00000393569.6:c.*35_*36delinsTC	ENSP00000377199.2:n.*35_*36delinsTC
ENST00000544807.6:c.1744-698_1744-697delinsTC	ENSP00000437513.2:n.1744-698_1744-697delinsTC
ENST00000555000.5:c.1279-698_1279-697delinsTC	ENSP00000450472.1:n.1279-698_1279-697delinsTC
NM_000153.3:c.*35_*36delinsTC	NP_000144.2:n.*35_*36delinsTC
NM_001201401.1:c.*35_*36delinsTC	NP_001188330.1:n.*35_*36delinsTC
NM_001201402.1:c.*35_*36delinsTC	NP_001188331.1:n.*35_*36delinsTC
XM_011536618.1:c.*35_*36delinsTC	XP_011534920.1:n.*35_*36delinsTC
XM_011536618.2:c.*35_*36delinsTC	XP_011534920.1:n.*35_*36delinsTC
NM_000153.4:c.*35_*36delinsTC MANE Select	NP_000144.2:n.*35_*36delinsTC
NM_001201401.2:c.*35_*36delinsTC	NP_001188330.1:n.*35_*36delinsTC
NM_001201402.2:c.*35_*36delinsTC	NP_001188331.1:n.*35_*36delinsTC