Canonical Allele Identifier: CA1410031451

Gene: GYG1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149009501_149009505delinsCAGAT , CM000665.2:g.149009501_149009505delinsCAGAT	GRCh38
NC_000003.11:g.148727288_148727292delinsCAGAT , CM000665.1:g.148727288_148727292delinsCAGAT	GRCh37
NC_000003.10:g.150209978_150209982delinsCAGAT	NCBI36
NG_027677.1:g.23094_23098delinsCAGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000345003.9:c.608+99_608+103delinsCAGAT MANE Select	ENSP00000340736.4:n.608+99_608+103delinsCAGAT
ENST00000296048.10:c.608+99_608+103delinsCAGAT	ENSP00000296048.6:n.608+99_608+103delinsCAGAT
ENST00000345003.8:c.608+99_608+103delinsCAGAT	ENSP00000340736.4:n.608+99_608+103delinsCAGAT
ENST00000461191.1:c.596+99_596+103delinsCAGAT	ENSP00000420247.1:n.596+99_596+103delinsCAGAT
ENST00000469873.1:n.522+99_522+103delinsCAGAT
ENST00000479119.1:n.224+99_224+103delinsCAGAT
ENST00000483267.5:c.469+12609_469+12613delinsCAGAT	ENSP00000419499.1:n.469+12609_469+12613delinsCAGAT
ENST00000484197.5:c.608+99_608+103delinsCAGAT	ENSP00000420683.1:n.608+99_608+103delinsCAGAT
ENST00000627418.2:c.469+12609_469+12613delinsCAGAT	ENSP00000486061.1:n.469+12609_469+12613delinsCAGAT
NM_001184720.1:c.608+99_608+103delinsCAGAT	NP_001171649.1:n.608+99_608+103delinsCAGAT
NM_001184721.1:c.608+99_608+103delinsCAGAT	NP_001171650.1:n.608+99_608+103delinsCAGAT
NM_004130.3:c.608+99_608+103delinsCAGAT	NP_004121.2:n.608+99_608+103delinsCAGAT
XM_017006275.1:c.431+99_431+103delinsCAGAT	XP_016861764.1:n.431+99_431+103delinsCAGAT
XM_017006276.1:c.146+99_146+103delinsCAGAT	XP_016861765.1:n.146+99_146+103delinsCAGAT
NM_004130.4:c.608+99_608+103delinsCAGAT MANE Select	NP_004121.2:n.608+99_608+103delinsCAGAT
NM_001184720.2:c.608+99_608+103delinsCAGAT	NP_001171649.1:n.608+99_608+103delinsCAGAT
NM_001184721.2:c.608+99_608+103delinsCAGAT	NP_001171650.1:n.608+99_608+103delinsCAGAT