Canonical Allele Identifier: CA2668126601
Gene: GYG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.149009554_149009555insC , CM000665.2:g.149009554_149009555insC GRCh38
NC_000003.11:g.148727341_148727342insC , CM000665.1:g.148727341_148727342insC GRCh37
NC_000003.10:g.150210031_150210032insC NCBI36
NG_027677.1:g.23147_23148insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000345003.9:c.608+152_608+153insC MANE Select ENSP00000340736.4:n.608+152_608+153insC
ENST00000296048.10:c.608+152_608+153insC ENSP00000296048.6:n.608+152_608+153insC
ENST00000345003.8:c.608+152_608+153insC ENSP00000340736.4:n.608+152_608+153insC
ENST00000461191.1:c.596+152_596+153insC ENSP00000420247.1:n.596+152_596+153insC
ENST00000469873.1:n.522+152_522+153insC
ENST00000479119.1:n.224+152_224+153insC
ENST00000483267.5:c.469+12662_469+12663insC ENSP00000419499.1:n.469+12662_469+12663insC
ENST00000484197.5:c.608+152_608+153insC ENSP00000420683.1:n.608+152_608+153insC
ENST00000627418.2:c.469+12662_469+12663insC ENSP00000486061.1:n.469+12662_469+12663insC
NM_001184720.1:c.608+152_608+153insC NP_001171649.1:n.608+152_608+153insC
NM_001184721.1:c.608+152_608+153insC NP_001171650.1:n.608+152_608+153insC
NM_004130.3:c.608+152_608+153insC NP_004121.2:n.608+152_608+153insC
XM_017006275.1:c.431+152_431+153insC XP_016861764.1:n.431+152_431+153insC
XM_017006276.1:c.146+152_146+153insC XP_016861765.1:n.146+152_146+153insC
NM_004130.4:c.608+152_608+153insC MANE Select NP_004121.2:n.608+152_608+153insC
NM_001184720.2:c.608+152_608+153insC NP_001171649.1:n.608+152_608+153insC
NM_001184721.2:c.608+152_608+153insC NP_001171650.1:n.608+152_608+153insC