Canonical Allele Identifier: CA2814673956
Gene: GYS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48974500_48974501insAG , CM000681.2:g.48974500_48974501insAG GRCh38
NC_000019.9:g.49477757_49477758insAG , CM000681.1:g.49477757_49477758insAG GRCh37
NC_000019.8:g.54169569_54169570insAG NCBI36
NG_012923.1:g.23854_23855insTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000323798.8:c.1422+120_1422+121insTC MANE Select ENSP00000317904.3:n.1422+120_1422+121insTC
ENST00000263276.6:c.1230+120_1230+121insTC ENSP00000263276.6:n.1230+120_1230+121insTC
ENST00000323798.7:c.1422+120_1422+121insTC ENSP00000317904.3:n.1422+120_1422+121insTC
ENST00000472004.5:n.177+120_177+121insTC
ENST00000496048.1:n.329+120_329+121insTC
NM_001161587.1:c.1230+120_1230+121insTC NP_001155059.1:n.1230+120_1230+121insTC
NM_002103.4:c.1422+120_1422+121insTC NP_002094.2:n.1422+120_1422+121insTC
NR_027763.1:n.1481+120_1481+121insTC
NM_002103.5:c.1422+120_1422+121insTC MANE Select NP_002094.2:n.1422+120_1422+121insTC
NM_001161587.2:c.1230+120_1230+121insTC NP_001155059.1:n.1230+120_1230+121insTC
NR_027763.2:n.1437+120_1437+121insTC