Canonical Allele Identifier: CA1410031491
Gene: GYG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.149009577_149009578delinsGC , CM000665.2:g.149009577_149009578delinsGC GRCh38
NC_000003.11:g.148727364_148727365delinsGC , CM000665.1:g.148727364_148727365delinsGC GRCh37
NC_000003.10:g.150210054_150210055delinsGC NCBI36
NG_027677.1:g.23170_23171delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000345003.9:c.608+175_608+176delinsGC MANE Select ENSP00000340736.4:n.608+175_608+176delinsGC
ENST00000296048.10:c.608+175_608+176delinsGC ENSP00000296048.6:n.608+175_608+176delinsGC
ENST00000345003.8:c.608+175_608+176delinsGC ENSP00000340736.4:n.608+175_608+176delinsGC
ENST00000461191.1:c.596+175_596+176delinsGC ENSP00000420247.1:n.596+175_596+176delinsGC
ENST00000469873.1:n.522+175_522+176delinsGC
ENST00000479119.1:n.224+175_224+176delinsGC
ENST00000483267.5:c.469+12685_469+12686delinsGC ENSP00000419499.1:n.469+12685_469+12686delinsGC
ENST00000484197.5:c.608+175_608+176delinsGC ENSP00000420683.1:n.608+175_608+176delinsGC
ENST00000627418.2:c.469+12685_469+12686delinsGC ENSP00000486061.1:n.469+12685_469+12686delinsGC
NM_001184720.1:c.608+175_608+176delinsGC NP_001171649.1:n.608+175_608+176delinsGC
NM_001184721.1:c.608+175_608+176delinsGC NP_001171650.1:n.608+175_608+176delinsGC
NM_004130.3:c.608+175_608+176delinsGC NP_004121.2:n.608+175_608+176delinsGC
XM_017006275.1:c.431+175_431+176delinsGC XP_016861764.1:n.431+175_431+176delinsGC
XM_017006276.1:c.146+175_146+176delinsGC XP_016861765.1:n.146+175_146+176delinsGC
NM_004130.4:c.608+175_608+176delinsGC MANE Select NP_004121.2:n.608+175_608+176delinsGC
NM_001184720.2:c.608+175_608+176delinsGC NP_001171649.1:n.608+175_608+176delinsGC
NM_001184721.2:c.608+175_608+176delinsGC NP_001171650.1:n.608+175_608+176delinsGC