Canonical Allele Identifier: CA2758851083
Gene: GYG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.148994336_148994337insA , CM000665.2:g.148994336_148994337insA GRCh38
NC_000003.11:g.148712123_148712124insA , CM000665.1:g.148712123_148712124insA GRCh37
NC_000003.10:g.150194813_150194814insA NCBI36
NG_027677.1:g.7929_7930insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000345003.9:c.143+59_143+60insA MANE Select ENSP00000340736.4:n.143+59_143+60insA
ENST00000296048.10:c.143+59_143+60insA ENSP00000296048.6:n.143+59_143+60insA
ENST00000345003.8:c.143+59_143+60insA ENSP00000340736.4:n.143+59_143+60insA
ENST00000461191.1:c.143+59_143+60insA ENSP00000420247.1:n.143+59_143+60insA
ENST00000465547.1:n.49+76_49+77insA
ENST00000473005.1:c.5+59_5+60insA ENSP00000417671.1:n.5+59_5+60insA
ENST00000478067.1:n.244+59_244+60insA
ENST00000483267.5:c.143+59_143+60insA ENSP00000419499.1:n.143+59_143+60insA
ENST00000484197.5:c.143+59_143+60insA ENSP00000420683.1:n.143+59_143+60insA
ENST00000492285.6:c.5+59_5+60insA ENSP00000418297.2:n.5+59_5+60insA
ENST00000627418.2:c.143+59_143+60insA ENSP00000486061.1:n.143+59_143+60insA
NM_001184720.1:c.143+59_143+60insA NP_001171649.1:n.143+59_143+60insA
NM_001184721.1:c.143+59_143+60insA NP_001171650.1:n.143+59_143+60insA
NM_004130.3:c.143+59_143+60insA NP_004121.2:n.143+59_143+60insA
XM_017006275.1:c.-34-1966_-34-1965insA XP_016861764.1:n.-34-1966_-34-1965insA
NM_004130.4:c.143+59_143+60insA MANE Select NP_004121.2:n.143+59_143+60insA
NM_001184720.2:c.143+59_143+60insA NP_001171649.1:n.143+59_143+60insA
NM_001184721.2:c.143+59_143+60insA NP_001171650.1:n.143+59_143+60insA