Canonical Allele Identifier: CA1410031335

Gene: GYG1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149009264_149009269delinsTTTTTC , CM000665.2:g.149009264_149009269delinsTTTTTC	GRCh38
NC_000003.11:g.148727051_148727056delinsTTTTTC , CM000665.1:g.148727051_148727056delinsTTTTTC	GRCh37
NC_000003.10:g.150209741_150209746delinsTTTTTC	NCBI36
NG_027677.1:g.22857_22862delinsTTTTTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000345003.9:c.482-12_482-7delinsTTTTTC MANE Select	ENSP00000340736.4:n.482-12_482-7delinsTTTTTC
ENST00000296048.10:c.482-12_482-7delinsTTTTTC	ENSP00000296048.6:n.482-12_482-7delinsTTTTTC
ENST00000345003.8:c.482-12_482-7delinsTTTTTC	ENSP00000340736.4:n.482-12_482-7delinsTTTTTC
ENST00000461191.1:c.470-12_470-7delinsTTTTTC	ENSP00000420247.1:n.470-12_470-7delinsTTTTTC
ENST00000469873.1:n.384_389delinsTTTTTC
ENST00000479119.1:n.98-12_98-7delinsTTTTTC
ENST00000483267.5:c.469+12372_469+12377delinsTTTTTC	ENSP00000419499.1:n.469+12372_469+12377delinsTTTTTC
ENST00000484197.5:c.482-12_482-7delinsTTTTTC	ENSP00000420683.1:n.482-12_482-7delinsTTTTTC
ENST00000497528.5:n.121-12_121-7delinsTTTTTC
ENST00000627418.2:c.469+12372_469+12377delinsTTTTTC	ENSP00000486061.1:n.469+12372_469+12377delinsTTTTTC
NM_001184720.1:c.482-12_482-7delinsTTTTTC	NP_001171649.1:n.482-12_482-7delinsTTTTTC
NM_001184721.1:c.482-12_482-7delinsTTTTTC	NP_001171650.1:n.482-12_482-7delinsTTTTTC
NM_004130.3:c.482-12_482-7delinsTTTTTC	NP_004121.2:n.482-12_482-7delinsTTTTTC
XM_017006275.1:c.305-12_305-7delinsTTTTTC	XP_016861764.1:n.305-12_305-7delinsTTTTTC
XM_017006276.1:c.20-12_20-7delinsTTTTTC	XP_016861765.1:n.20-12_20-7delinsTTTTTC
NM_004130.4:c.482-12_482-7delinsTTTTTC MANE Select	NP_004121.2:n.482-12_482-7delinsTTTTTC
NM_001184720.2:c.482-12_482-7delinsTTTTTC	NP_001171649.1:n.482-12_482-7delinsTTTTTC
NM_001184721.2:c.482-12_482-7delinsTTTTTC	NP_001171650.1:n.482-12_482-7delinsTTTTTC