Canonical Allele Identifier: CA16041691

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87939965del , CM000676.2:g.87939965del	GRCh38
NC_000014.8:g.88406309del , CM000676.1:g.88406309del	GRCh37
NC_000014.7:g.87476062del	NCBI36
NG_011853.2:g.58599del
NG_011853.3:g.58599del

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.1851del MANE Select	NP_000144.2:p.Tyr617Ter
ENST00000261304.7:c.1851del MANE Select	ENSP00000261304.2:p.Tyr617Ter
NM_000153.3:c.1851del	NP_000144.2:p.Tyr617Ter
NM_001201401.1:c.1782del	NP_001188330.1:p.Tyr594Ter
NM_001201401.2:c.1782del	NP_001188330.1:p.Tyr594Ter
NM_001201402.1:c.1773del	NP_001188331.1:p.Tyr591Ter
NM_001201402.2:c.1773del	NP_001188331.1:p.Tyr591Ter
ENST00000261304.6:c.1851del	ENSP00000261304.2:p.Tyr617Ter
ENST00000393568.8:c.1782del	ENSP00000377198.4:p.Tyr594Ter
ENST00000393569.6:c.1773del	ENSP00000377199.2:p.Tyr591Ter
ENST00000544807.6:c.1683del	ENSP00000437513.2:p.Tyr561Ter
ENST00000555000.5:c.1218del	ENSP00000450472.1:p.Tyr406Ter
ENST00000555179.1:c.387del
XM_011536618.1:c.1683del	XP_011534920.1:p.Tyr561Ter
XM_011536618.2:c.1683del	XP_011534920.1:p.Tyr561Ter