Canonical Allele Identifier: CA1054775102

Gene: GYG1

Linked Data

• dbSNP Id: rs1712658958
• gnomAD v3: 3-148994218-GCA-G
• gnomAD v4: 3-148994218-GCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.148994221_148994222del , CM000665.2:g.148994221_148994222del	GRCh38
NC_000003.11:g.148712008_148712009del , CM000665.1:g.148712008_148712009del	GRCh37
NC_000003.10:g.150194698_150194699del	NCBI36
NG_027677.1:g.7814_7815del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000345003.9:c.87_88del MANE Select	ENSP00000340736.4:p.His29GlnfsTer27
ENST00000296048.10:c.87_88del	ENSP00000296048.6:p.His29GlnfsTer27
ENST00000345003.8:c.87_88del	ENSP00000340736.4:p.His29GlnfsTer27
ENST00000461191.1:c.87_88del	ENSP00000420247.1:p.His29GlnfsTer27
ENST00000465547.1:n.10_11del
ENST00000473005.1:c.-52_-51del	ENSP00000417671.1:n.-52_-51del
ENST00000478067.1:n.188_189del
ENST00000483267.5:c.87_88del	ENSP00000419499.1:p.His29GlnfsTer27
ENST00000484197.5:c.87_88del	ENSP00000420683.1:p.His29GlnfsTer27
ENST00000492285.6:c.-52_-51del	ENSP00000418297.2:n.-52_-51del
ENST00000627418.2:c.87_88del	ENSP00000486061.1:p.His29GlnfsTer27
NM_001184720.1:c.87_88del	NP_001171649.1:p.His29GlnfsTer27
NM_001184721.1:c.87_88del	NP_001171650.1:p.His29GlnfsTer27
NM_004130.3:c.87_88del	NP_004121.2:p.His29GlnfsTer27
XM_017006275.1:c.-34-2081_-34-2080del	XP_016861764.1:n.-34-2081_-34-2080del
NM_004130.4:c.87_88del MANE Select	NP_004121.2:p.His29GlnfsTer27
NM_001184720.2:c.87_88del	NP_001171649.1:p.His29GlnfsTer27
NM_001184721.2:c.87_88del	NP_001171650.1:p.His29GlnfsTer27