Canonical Allele Identifier: CA2515688043

Gene: GALC

Linked Data

• gnomAD v4: 14-87947853-G-GCA

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87947853_87947854insCA , CM000676.2:g.87947853_87947854insCA	GRCh38
NC_000014.8:g.88414197_88414198insCA , CM000676.1:g.88414197_88414198insCA	GRCh37
NC_000014.7:g.87483950_87483951insCA	NCBI36
NG_011853.2:g.50710_50711insTG
NG_011853.3:g.50710_50711insTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1363_1364insTG MANE Select	ENSP00000261304.2:p.Thr455MetfsTer3
ENST00000261304.6:c.1363_1364insTG	ENSP00000261304.2:p.Thr455MetfsTer3
ENST00000393568.8:c.1294_1295insTG	ENSP00000377198.4:p.Thr432MetfsTer3
ENST00000393569.6:c.1285_1286insTG	ENSP00000377199.2:p.Thr429MetfsTer3
ENST00000544807.6:c.1195_1196insTG	ENSP00000437513.2:p.Thr399MetfsTer3
ENST00000555000.5:c.730_731insTG	ENSP00000450472.1:p.Thr244MetfsTer3
ENST00000555179.1:c.80_81insTG
ENST00000557316.5:c.*761_*762insTG	ENSP00000452314.1:n.*761_*762insTG
NM_000153.3:c.1363_1364insTG	NP_000144.2:p.Thr455MetfsTer3
NM_001201401.1:c.1294_1295insTG	NP_001188330.1:p.Thr432MetfsTer3
NM_001201402.1:c.1285_1286insTG	NP_001188331.1:p.Thr429MetfsTer3
XM_011536618.1:c.1195_1196insTG	XP_011534920.1:p.Thr399MetfsTer3
XM_011536618.2:c.1195_1196insTG	XP_011534920.1:p.Thr399MetfsTer3
NM_000153.4:c.1363_1364insTG MANE Select	NP_000144.2:p.Thr455MetfsTer3
NM_001201401.2:c.1294_1295insTG	NP_001188330.1:p.Thr432MetfsTer3
NM_001201402.2:c.1285_1286insTG	NP_001188331.1:p.Thr429MetfsTer3