Canonical Allele Identifier: CA1410031535
Gene: GYG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.149009682_149009684delinsAAC , CM000665.2:g.149009682_149009684delinsAAC GRCh38
NC_000003.11:g.148727469_148727471delinsAAC , CM000665.1:g.148727469_148727471delinsAAC GRCh37
NC_000003.10:g.150210159_150210161delinsAAC NCBI36
NG_027677.1:g.23275_23277delinsAAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000345003.9:c.608+280_608+282delinsAAC MANE Select ENSP00000340736.4:n.608+280_608+282delinsAAC
ENST00000296048.10:c.608+280_608+282delinsAAC ENSP00000296048.6:n.608+280_608+282delinsAAC
ENST00000345003.8:c.608+280_608+282delinsAAC ENSP00000340736.4:n.608+280_608+282delinsAAC
ENST00000461191.1:c.596+280_596+282delinsAAC ENSP00000420247.1:n.596+280_596+282delinsAAC
ENST00000469873.1:n.522+280_522+282delinsAAC
ENST00000479119.1:n.224+280_224+282delinsAAC
ENST00000483267.5:c.469+12790_469+12792delinsAAC ENSP00000419499.1:n.469+12790_469+12792delinsAAC
ENST00000484197.5:c.608+280_608+282delinsAAC ENSP00000420683.1:n.608+280_608+282delinsAAC
ENST00000627418.2:c.469+12790_469+12792delinsAAC ENSP00000486061.1:n.469+12790_469+12792delinsAAC
NM_001184720.1:c.608+280_608+282delinsAAC NP_001171649.1:n.608+280_608+282delinsAAC
NM_001184721.1:c.608+280_608+282delinsAAC NP_001171650.1:n.608+280_608+282delinsAAC
NM_004130.3:c.608+280_608+282delinsAAC NP_004121.2:n.608+280_608+282delinsAAC
XM_017006275.1:c.431+280_431+282delinsAAC XP_016861764.1:n.431+280_431+282delinsAAC
XM_017006276.1:c.146+280_146+282delinsAAC XP_016861765.1:n.146+280_146+282delinsAAC
NM_004130.4:c.608+280_608+282delinsAAC MANE Select NP_004121.2:n.608+280_608+282delinsAAC
NM_001184720.2:c.608+280_608+282delinsAAC NP_001171649.1:n.608+280_608+282delinsAAC
NM_001184721.2:c.608+280_608+282delinsAAC NP_001171650.1:n.608+280_608+282delinsAAC