Canonical Allele Identifier: CA1410031333

Gene: GYG1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149009261_149009262delinsAT , CM000665.2:g.149009261_149009262delinsAT	GRCh38
NC_000003.11:g.148727048_148727049delinsAT , CM000665.1:g.148727048_148727049delinsAT	GRCh37
NC_000003.10:g.150209738_150209739delinsAT	NCBI36
NG_027677.1:g.22854_22855delinsAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000345003.9:c.482-15_482-14delinsAT MANE Select	ENSP00000340736.4:n.482-15_482-14delinsAT
ENST00000296048.10:c.482-15_482-14delinsAT	ENSP00000296048.6:n.482-15_482-14delinsAT
ENST00000345003.8:c.482-15_482-14delinsAT	ENSP00000340736.4:n.482-15_482-14delinsAT
ENST00000461191.1:c.470-15_470-14delinsAT	ENSP00000420247.1:n.470-15_470-14delinsAT
ENST00000469873.1:n.381_382delinsAT
ENST00000479119.1:n.98-15_98-14delinsAT
ENST00000483267.5:c.469+12369_469+12370delinsAT	ENSP00000419499.1:n.469+12369_469+12370delinsAT
ENST00000484197.5:c.482-15_482-14delinsAT	ENSP00000420683.1:n.482-15_482-14delinsAT
ENST00000497528.5:n.121-15_121-14delinsAT
ENST00000627418.2:c.469+12369_469+12370delinsAT	ENSP00000486061.1:n.469+12369_469+12370delinsAT
NM_001184720.1:c.482-15_482-14delinsAT	NP_001171649.1:n.482-15_482-14delinsAT
NM_001184721.1:c.482-15_482-14delinsAT	NP_001171650.1:n.482-15_482-14delinsAT
NM_004130.3:c.482-15_482-14delinsAT	NP_004121.2:n.482-15_482-14delinsAT
XM_017006275.1:c.305-15_305-14delinsAT	XP_016861764.1:n.305-15_305-14delinsAT
XM_017006276.1:c.20-15_20-14delinsAT	XP_016861765.1:n.20-15_20-14delinsAT
NM_004130.4:c.482-15_482-14delinsAT MANE Select	NP_004121.2:n.482-15_482-14delinsAT
NM_001184720.2:c.482-15_482-14delinsAT	NP_001171649.1:n.482-15_482-14delinsAT
NM_001184721.2:c.482-15_482-14delinsAT	NP_001171650.1:n.482-15_482-14delinsAT