Canonical Allele Identifier: CA2153385547

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87984286_87984294delinsAGCCTCATG , CM000676.2:g.87984286_87984294delinsAGCCTCATG	GRCh38
NC_000014.8:g.88450630_88450638delinsAGCCTCATG , CM000676.1:g.88450630_88450638delinsAGCCTCATG	GRCh37
NC_000014.7:g.87520383_87520391delinsAGCCTCATG	NCBI36
NG_011853.2:g.14270_14278delinsCATGAGGCT
NG_011853.3:g.14270_14278delinsCATGAGGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.582+100_582+108delinsCATGAGGCT MANE Select	ENSP00000261304.2:n.582+100_582+108delinsCATGAGGCT
ENST00000261304.6:c.582+100_582+108delinsCATGAGGCT	ENSP00000261304.2:n.582+100_582+108delinsCATGAGGCT
ENST00000393568.8:c.513+100_513+108delinsCATGAGGCT	ENSP00000377198.4:n.513+100_513+108delinsCATGAGGCT
ENST00000393569.6:c.504+100_504+108delinsCATGAGGCT	ENSP00000377199.2:n.504+100_504+108delinsCATGAGGCT
ENST00000474294.6:n.572+100_572+108delinsCATGAGGCT
ENST00000544807.6:c.414+100_414+108delinsCATGAGGCT	ENSP00000437513.2:n.414+100_414+108delinsCATGAGGCT
ENST00000554372.5:c.*331+100_*331+108delinsCATGAGGCT	ENSP00000451884.1:n.*331+100_*331+108delinsCATGAGGCT
ENST00000554916.5:n.461+100_461+108delinsCATGAGGCT
ENST00000556261.5:n.283+100_283+108delinsCATGAGGCT
ENST00000557316.5:c.582+100_582+108delinsCATGAGGCT	ENSP00000452314.1:n.582+100_582+108delinsCATGAGGCT
ENST00000622264.4:c.572+100_572+108delinsCATGAGGCT
NM_000153.3:c.582+100_582+108delinsCATGAGGCT	NP_000144.2:n.582+100_582+108delinsCATGAGGCT
NM_001201401.1:c.513+100_513+108delinsCATGAGGCT	NP_001188330.1:n.513+100_513+108delinsCATGAGGCT
NM_001201402.1:c.504+100_504+108delinsCATGAGGCT	NP_001188331.1:n.504+100_504+108delinsCATGAGGCT
XM_011536618.1:c.414+100_414+108delinsCATGAGGCT	XP_011534920.1:n.414+100_414+108delinsCATGAGGCT
XM_011536618.2:c.414+100_414+108delinsCATGAGGCT	XP_011534920.1:n.414+100_414+108delinsCATGAGGCT
NM_000153.4:c.582+100_582+108delinsCATGAGGCT MANE Select	NP_000144.2:n.582+100_582+108delinsCATGAGGCT
NM_001201401.2:c.513+100_513+108delinsCATGAGGCT	NP_001188330.1:n.513+100_513+108delinsCATGAGGCT
NM_001201402.2:c.504+100_504+108delinsCATGAGGCT	NP_001188331.1:n.504+100_504+108delinsCATGAGGCT