Canonical Allele Identifier: CA2153346371

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87968195_87968196delinsAC , CM000676.2:g.87968195_87968196delinsAC	GRCh38
NC_000014.8:g.88434539_88434540delinsAC , CM000676.1:g.88434539_88434540delinsAC	GRCh37
NC_000014.7:g.87504292_87504293delinsAC	NCBI36
NG_011853.2:g.30368_30369delinsGT
NG_011853.3:g.30368_30369delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.908+139_908+140delinsGT MANE Select	ENSP00000261304.2:n.908+139_908+140delinsGT
ENST00000261304.6:c.908+139_908+140delinsGT	ENSP00000261304.2:n.908+139_908+140delinsGT
ENST00000393568.8:c.839+139_839+140delinsGT	ENSP00000377198.4:n.839+139_839+140delinsGT
ENST00000393569.6:c.830+139_830+140delinsGT	ENSP00000377199.2:n.830+139_830+140delinsGT
ENST00000474294.6:n.898+139_898+140delinsGT
ENST00000544807.6:c.740+139_740+140delinsGT	ENSP00000437513.2:n.740+139_740+140delinsGT
ENST00000555000.5:c.275+139_275+140delinsGT	ENSP00000450472.1:n.275+139_275+140delinsGT
ENST00000557316.5:c.*306+139_*306+140delinsGT	ENSP00000452314.1:n.*306+139_*306+140delinsGT
ENST00000622264.4:c.898+139_898+140delinsGT
NM_000153.3:c.908+139_908+140delinsGT	NP_000144.2:n.908+139_908+140delinsGT
NM_001201401.1:c.839+139_839+140delinsGT	NP_001188330.1:n.839+139_839+140delinsGT
NM_001201402.1:c.830+139_830+140delinsGT	NP_001188331.1:n.830+139_830+140delinsGT
XM_011536618.1:c.740+139_740+140delinsGT	XP_011534920.1:n.740+139_740+140delinsGT
XM_011536618.2:c.740+139_740+140delinsGT	XP_011534920.1:n.740+139_740+140delinsGT
NM_000153.4:c.908+139_908+140delinsGT MANE Select	NP_000144.2:n.908+139_908+140delinsGT
NM_001201401.2:c.839+139_839+140delinsGT	NP_001188330.1:n.839+139_839+140delinsGT
NM_001201402.2:c.830+139_830+140delinsGT	NP_001188331.1:n.830+139_830+140delinsGT