Canonical Allele Identifier: CA16617835
Gene: GYG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 422087
ClinVar RCV Id: RCV000483737
dbSNP Id: rs1064795548

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.148994212del , CM000665.2:g.148994212del GRCh38
NC_000003.11:g.148711999del , CM000665.1:g.148711999del GRCh37
NC_000003.10:g.150194689del NCBI36
NG_027677.1:g.7805del

Transcript Alleles

HGVS Amino-acid change
ENST00000345003.9:c.78del MANE Select ENSP00000340736.4:p.Lys27AsnfsTer21
ENST00000296048.10:c.78del ENSP00000296048.6:p.Lys27AsnfsTer21
ENST00000345003.8:c.78del ENSP00000340736.4:p.Lys27AsnfsTer21
ENST00000461191.1:c.78del ENSP00000420247.1:p.Lys27AsnfsTer21
ENST00000465547.1:n.1del
ENST00000473005.1:c.-61del ENSP00000417671.1:n.-61del
ENST00000478067.1:n.179del
ENST00000483267.5:c.78del ENSP00000419499.1:p.Lys27AsnfsTer21
ENST00000484197.5:c.78del ENSP00000420683.1:p.Lys27AsnfsTer21
ENST00000492285.6:c.-61del ENSP00000418297.2:n.-61del
ENST00000627418.2:c.78del ENSP00000486061.1:p.Lys27AsnfsTer21
NM_001184720.1:c.78del NP_001171649.1:p.Lys27AsnfsTer21
NM_001184721.1:c.78del NP_001171650.1:p.Lys27AsnfsTer21
NM_004130.3:c.78del NP_004121.2:p.Lys27AsnfsTer21
XM_017006275.1:c.-34-2090del XP_016861764.1:n.-34-2090del
NM_004130.4:c.78del MANE Select NP_004121.2:p.Lys27AsnfsTer21
NM_001184720.2:c.78del NP_001171649.1:p.Lys27AsnfsTer21
NM_001184721.2:c.78del NP_001171650.1:p.Lys27AsnfsTer21