Canonical Allele Identifier: CA2668126529

Gene: GYG1

Linked Data

• gnomAD v4: 3-149009296-AACAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149009298_149009301del , CM000665.2:g.149009298_149009301del	GRCh38
NC_000003.11:g.148727085_148727088del , CM000665.1:g.148727085_148727088del	GRCh37
NC_000003.10:g.150209775_150209778del	NCBI36
NG_027677.1:g.22891_22894del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000345003.9:c.504_507del MANE Select	ENSP00000340736.4:p.Thr169PhefsTer20
ENST00000296048.10:c.504_507del	ENSP00000296048.6:p.Thr169PhefsTer20
ENST00000345003.8:c.504_507del	ENSP00000340736.4:p.Thr169PhefsTer20
ENST00000461191.1:c.492_495del	ENSP00000420247.1:p.Thr165PhefsTer20
ENST00000469873.1:n.418_421del
ENST00000479119.1:n.120_123del
ENST00000483267.5:c.469+12406_469+12409del	ENSP00000419499.1:n.469+12406_469+12409del
ENST00000484197.5:c.504_507del	ENSP00000420683.1:p.Thr169PhefsTer20
ENST00000497528.5:n.143_146del
ENST00000627418.2:c.469+12406_469+12409del	ENSP00000486061.1:n.469+12406_469+12409del
NM_001184720.1:c.504_507del	NP_001171649.1:p.Thr169PhefsTer20
NM_001184721.1:c.504_507del	NP_001171650.1:p.Thr169PhefsTer20
NM_004130.3:c.504_507del	NP_004121.2:p.Thr169PhefsTer20
XM_017006275.1:c.327_330del	XP_016861764.1:p.Thr110PhefsTer20
XM_017006276.1:c.42_45del	XP_016861765.1:p.Thr15PhefsTer20
NM_004130.4:c.504_507del MANE Select	NP_004121.2:p.Thr169PhefsTer20
NM_001184720.2:c.504_507del	NP_001171649.1:p.Thr169PhefsTer20
NM_001184721.2:c.504_507del	NP_001171650.1:p.Thr169PhefsTer20