Canonical Allele Identifier: CA1410031462
Gene: GYG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.149009516_149009517delinsAG , CM000665.2:g.149009516_149009517delinsAG GRCh38
NC_000003.11:g.148727303_148727304delinsAG , CM000665.1:g.148727303_148727304delinsAG GRCh37
NC_000003.10:g.150209993_150209994delinsAG NCBI36
NG_027677.1:g.23109_23110delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000345003.9:c.608+114_608+115delinsAG MANE Select ENSP00000340736.4:n.608+114_608+115delinsAG
ENST00000296048.10:c.608+114_608+115delinsAG ENSP00000296048.6:n.608+114_608+115delinsAG
ENST00000345003.8:c.608+114_608+115delinsAG ENSP00000340736.4:n.608+114_608+115delinsAG
ENST00000461191.1:c.596+114_596+115delinsAG ENSP00000420247.1:n.596+114_596+115delinsAG
ENST00000469873.1:n.522+114_522+115delinsAG
ENST00000479119.1:n.224+114_224+115delinsAG
ENST00000483267.5:c.469+12624_469+12625delinsAG ENSP00000419499.1:n.469+12624_469+12625delinsAG
ENST00000484197.5:c.608+114_608+115delinsAG ENSP00000420683.1:n.608+114_608+115delinsAG
ENST00000627418.2:c.469+12624_469+12625delinsAG ENSP00000486061.1:n.469+12624_469+12625delinsAG
NM_001184720.1:c.608+114_608+115delinsAG NP_001171649.1:n.608+114_608+115delinsAG
NM_001184721.1:c.608+114_608+115delinsAG NP_001171650.1:n.608+114_608+115delinsAG
NM_004130.3:c.608+114_608+115delinsAG NP_004121.2:n.608+114_608+115delinsAG
XM_017006275.1:c.431+114_431+115delinsAG XP_016861764.1:n.431+114_431+115delinsAG
XM_017006276.1:c.146+114_146+115delinsAG XP_016861765.1:n.146+114_146+115delinsAG
NM_004130.4:c.608+114_608+115delinsAG MANE Select NP_004121.2:n.608+114_608+115delinsAG
NM_001184720.2:c.608+114_608+115delinsAG NP_001171649.1:n.608+114_608+115delinsAG
NM_001184721.2:c.608+114_608+115delinsAG NP_001171650.1:n.608+114_608+115delinsAG