Canonical Allele Identifier: CA2758851547

Gene: GYG1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149009425_149009426insCACTGCAACCTCTGCCTCCCGGGTTCCAGC , CM000665.2:g.149009425_149009426insCACTGCAACCTCTGCCTCCCGGGTTCCAGC	GRCh38
NC_000003.11:g.148727212_148727213insCACTGCAACCTCTGCCTCCCGGGTTCCAGC , CM000665.1:g.148727212_148727213insCACTGCAACCTCTGCCTCCCGGGTTCCAGC	GRCh37
NC_000003.10:g.150209902_150209903insCACTGCAACCTCTGCCTCCCGGGTTCCAGC	NCBI36
NG_027677.1:g.23018_23019insCACTGCAACCTCTGCCTCCCGGGTTCCAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000345003.9:c.608+23_608+24insCACTGCAACCTCTGCCTCCCGGGTTCCAGC MANE Select	ENSP00000340736.4:n.608+23_608+24insCACTGCAACCTCTGCCTCCCGGGTT...
ENST00000296048.10:c.608+23_608+24insCACTGCAACCTCTGCCTCCCGGGTTCCAGC	ENSP00000296048.6:n.608+23_608+24insCACTGCAACCTCTGCCTCCCGGGTT...
ENST00000345003.8:c.608+23_608+24insCACTGCAACCTCTGCCTCCCGGGTTCCAGC	ENSP00000340736.4:n.608+23_608+24insCACTGCAACCTCTGCCTCCCGGGTT...
ENST00000461191.1:c.596+23_596+24insCACTGCAACCTCTGCCTCCCGGGTTCCAGC	ENSP00000420247.1:n.596+23_596+24insCACTGCAACCTCTGCCTCCCGGGTT...
ENST00000469873.1:n.522+23_522+24insCACTGCAACCTCTGCCTCCCGGGTTCCAGC
ENST00000479119.1:n.224+23_224+24insCACTGCAACCTCTGCCTCCCGGGTTCCAGC
ENST00000483267.5:c.469+12533_469+12534insCACTGCAACCTCTGCCTCCCGGGTTCCAGC	ENSP00000419499.1:n.469+12533_469+12534insCACTGCAACCTCTGCCTCC...
ENST00000484197.5:c.608+23_608+24insCACTGCAACCTCTGCCTCCCGGGTTCCAGC	ENSP00000420683.1:n.608+23_608+24insCACTGCAACCTCTGCCTCCCGGGTT...
ENST00000627418.2:c.469+12533_469+12534insCACTGCAACCTCTGCCTCCCGGGTTCCAGC	ENSP00000486061.1:n.469+12533_469+12534insCACTGCAACCTCTGCCTCC...
NM_001184720.1:c.608+23_608+24insCACTGCAACCTCTGCCTCCCGGGTTCCAGC	NP_001171649.1:n.608+23_608+24insCACTGCAACCTCTGCCTCCCGGGTTCCA...
NM_001184721.1:c.608+23_608+24insCACTGCAACCTCTGCCTCCCGGGTTCCAGC	NP_001171650.1:n.608+23_608+24insCACTGCAACCTCTGCCTCCCGGGTTCCA...
NM_004130.3:c.608+23_608+24insCACTGCAACCTCTGCCTCCCGGGTTCCAGC	NP_004121.2:n.608+23_608+24insCACTGCAACCTCTGCCTCCCGGGTTCCAGC
XM_017006275.1:c.431+23_431+24insCACTGCAACCTCTGCCTCCCGGGTTCCAGC	XP_016861764.1:n.431+23_431+24insCACTGCAACCTCTGCCTCCCGGGTTCCA...
XM_017006276.1:c.146+23_146+24insCACTGCAACCTCTGCCTCCCGGGTTCCAGC	XP_016861765.1:n.146+23_146+24insCACTGCAACCTCTGCCTCCCGGGTTCCA...
NM_004130.4:c.608+23_608+24insCACTGCAACCTCTGCCTCCCGGGTTCCAGC MANE Select	NP_004121.2:n.608+23_608+24insCACTGCAACCTCTGCCTCCCGGGTTCCAGC
NM_001184720.2:c.608+23_608+24insCACTGCAACCTCTGCCTCCCGGGTTCCAGC	NP_001171649.1:n.608+23_608+24insCACTGCAACCTCTGCCTCCCGGGTTCCA...
NM_001184721.2:c.608+23_608+24insCACTGCAACCTCTGCCTCCCGGGTTCCAGC	NP_001171650.1:n.608+23_608+24insCACTGCAACCTCTGCCTCCCGGGTTCCA...