Canonical Allele Identifier: CA2508350337

Gene: GALC

Linked Data

• gnomAD v4: 14-87947851-G-GAGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87947851_87947852insAGCC , CM000676.2:g.87947851_87947852insAGCC	GRCh38
NC_000014.8:g.88414195_88414196insAGCC , CM000676.1:g.88414195_88414196insAGCC	GRCh37
NC_000014.7:g.87483948_87483949insAGCC	NCBI36
NG_011853.2:g.50712_50713insGGCT
NG_011853.3:g.50712_50713insGGCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1365_1366insGGCT MANE Select	ENSP00000261304.2:p.Leu456GlyfsTer6
ENST00000261304.6:c.1365_1366insGGCT	ENSP00000261304.2:p.Leu456GlyfsTer6
ENST00000393568.8:c.1296_1297insGGCT	ENSP00000377198.4:p.Leu433GlyfsTer6
ENST00000393569.6:c.1287_1288insGGCT	ENSP00000377199.2:p.Leu430GlyfsTer6
ENST00000544807.6:c.1197_1198insGGCT	ENSP00000437513.2:p.Leu400GlyfsTer6
ENST00000555000.5:c.732_733insGGCT	ENSP00000450472.1:p.Leu245GlyfsTer6
ENST00000555179.1:c.82_83insGGCT
ENST00000557316.5:c.*763_*764insGGCT	ENSP00000452314.1:n.*763_*764insGGCT
NM_000153.3:c.1365_1366insGGCT	NP_000144.2:p.Leu456GlyfsTer6
NM_001201401.1:c.1296_1297insGGCT	NP_001188330.1:p.Leu433GlyfsTer6
NM_001201402.1:c.1287_1288insGGCT	NP_001188331.1:p.Leu430GlyfsTer6
XM_011536618.1:c.1197_1198insGGCT	XP_011534920.1:p.Leu400GlyfsTer6
XM_011536618.2:c.1197_1198insGGCT	XP_011534920.1:p.Leu400GlyfsTer6
NM_000153.4:c.1365_1366insGGCT MANE Select	NP_000144.2:p.Leu456GlyfsTer6
NM_001201401.2:c.1296_1297insGGCT	NP_001188330.1:p.Leu433GlyfsTer6
NM_001201402.2:c.1287_1288insGGCT	NP_001188331.1:p.Leu430GlyfsTer6