Canonical Allele Identifier: CA965688172

Gene: GALC

Linked Data

• dbSNP Id: rs1886483392
• gnomAD v3: 14-87976158-CTTGT-C
• gnomAD v4: 14-87976158-CTTGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976163_87976166del , CM000676.2:g.87976163_87976166del	GRCh38
NC_000014.8:g.88442507_88442510del , CM000676.1:g.88442507_88442510del	GRCh37
NC_000014.7:g.87512260_87512263del	NCBI36
NG_011853.2:g.22402_22405del
NG_011853.3:g.22402_22405del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.752+196_752+199del MANE Select	ENSP00000261304.2:n.752+196_752+199del
ENST00000261304.6:c.752+196_752+199del	ENSP00000261304.2:n.752+196_752+199del
ENST00000393568.8:c.683+196_683+199del	ENSP00000377198.4:n.683+196_683+199del
ENST00000393569.6:c.674+196_674+199del	ENSP00000377199.2:n.674+196_674+199del
ENST00000474294.6:n.742+196_742+199del
ENST00000477716.3:n.507+196_507+199del
ENST00000544807.6:c.584+196_584+199del	ENSP00000437513.2:n.584+196_584+199del
ENST00000555000.5:c.119+196_119+199del	ENSP00000450472.1:n.119+196_119+199del
ENST00000557316.5:c.*150+196_*150+199del	ENSP00000452314.1:n.*150+196_*150+199del
ENST00000622264.4:c.742+196_742+199del
NM_000153.3:c.752+196_752+199del	NP_000144.2:n.752+196_752+199del
NM_001201401.1:c.683+196_683+199del	NP_001188330.1:n.683+196_683+199del
NM_001201402.1:c.674+196_674+199del	NP_001188331.1:n.674+196_674+199del
XM_011536618.1:c.584+196_584+199del	XP_011534920.1:n.584+196_584+199del
XM_011536618.2:c.584+196_584+199del	XP_011534920.1:n.584+196_584+199del
NM_000153.4:c.752+196_752+199del MANE Select	NP_000144.2:n.752+196_752+199del
NM_001201401.2:c.683+196_683+199del	NP_001188330.1:n.683+196_683+199del
NM_001201402.2:c.674+196_674+199del	NP_001188331.1:n.674+196_674+199del