Canonical Allele Identifier: CA2153350291

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87934685_87934688delinsAAAG , CM000676.2:g.87934685_87934688delinsAAAG	GRCh38
NC_000014.8:g.88401029_88401032delinsAAAG , CM000676.1:g.88401029_88401032delinsAAAG	GRCh37
NC_000014.7:g.87470782_87470785delinsAAAG	NCBI36
NG_011853.2:g.63876_63879delinsCTTT
NG_011853.3:g.63876_63879delinsCTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.*44_*47delinsCTTT MANE Select	ENSP00000261304.2:n.*44_*47delinsCTTT
ENST00000261304.6:c.*44_*47delinsCTTT	ENSP00000261304.2:n.*44_*47delinsCTTT
ENST00000393568.8:c.*44_*47delinsCTTT	ENSP00000377198.4:n.*44_*47delinsCTTT
ENST00000393569.6:c.*44_*47delinsCTTT	ENSP00000377199.2:n.*44_*47delinsCTTT
ENST00000544807.6:c.1744-689_1744-686delinsCTTT	ENSP00000437513.2:n.1744-689_1744-686delinsCTTT
ENST00000555000.5:c.1279-689_1279-686delinsCTTT	ENSP00000450472.1:n.1279-689_1279-686delinsCTTT
NM_000153.3:c.*44_*47delinsCTTT	NP_000144.2:n.*44_*47delinsCTTT
NM_001201401.1:c.*44_*47delinsCTTT	NP_001188330.1:n.*44_*47delinsCTTT
NM_001201402.1:c.*44_*47delinsCTTT	NP_001188331.1:n.*44_*47delinsCTTT
XM_011536618.1:c.*44_*47delinsCTTT	XP_011534920.1:n.*44_*47delinsCTTT
XM_011536618.2:c.*44_*47delinsCTTT	XP_011534920.1:n.*44_*47delinsCTTT
NM_000153.4:c.*44_*47delinsCTTT MANE Select	NP_000144.2:n.*44_*47delinsCTTT
NM_001201401.2:c.*44_*47delinsCTTT	NP_001188330.1:n.*44_*47delinsCTTT
NM_001201402.2:c.*44_*47delinsCTTT	NP_001188331.1:n.*44_*47delinsCTTT