Canonical Allele Identifier: CA1410031461

Gene: GYG1

Linked Data

• dbSNP Id: rs1713601420

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149009514_149009515insAAATGCCGG , CM000665.2:g.149009514_149009515insAAATGCCGG	GRCh38
NC_000003.11:g.148727301_148727302insAAATGCCGG , CM000665.1:g.148727301_148727302insAAATGCCGG	GRCh37
NC_000003.10:g.150209991_150209992insAAATGCCGG	NCBI36
NG_027677.1:g.23107_23108insAAATGCCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000345003.9:c.608+112_608+113insAAATGCCGG MANE Select	ENSP00000340736.4:n.608+112_608+113insAAATGCCGG
ENST00000296048.10:c.608+112_608+113insAAATGCCGG	ENSP00000296048.6:n.608+112_608+113insAAATGCCGG
ENST00000345003.8:c.608+112_608+113insAAATGCCGG	ENSP00000340736.4:n.608+112_608+113insAAATGCCGG
ENST00000461191.1:c.596+112_596+113insAAATGCCGG	ENSP00000420247.1:n.596+112_596+113insAAATGCCGG
ENST00000469873.1:n.522+112_522+113insAAATGCCGG
ENST00000479119.1:n.224+112_224+113insAAATGCCGG
ENST00000483267.5:c.469+12622_469+12623insAAATGCCGG	ENSP00000419499.1:n.469+12622_469+12623insAAATGCCGG
ENST00000484197.5:c.608+112_608+113insAAATGCCGG	ENSP00000420683.1:n.608+112_608+113insAAATGCCGG
ENST00000627418.2:c.469+12622_469+12623insAAATGCCGG	ENSP00000486061.1:n.469+12622_469+12623insAAATGCCGG
NM_001184720.1:c.608+112_608+113insAAATGCCGG	NP_001171649.1:n.608+112_608+113insAAATGCCGG
NM_001184721.1:c.608+112_608+113insAAATGCCGG	NP_001171650.1:n.608+112_608+113insAAATGCCGG
NM_004130.3:c.608+112_608+113insAAATGCCGG	NP_004121.2:n.608+112_608+113insAAATGCCGG
XM_017006275.1:c.431+112_431+113insAAATGCCGG	XP_016861764.1:n.431+112_431+113insAAATGCCGG
XM_017006276.1:c.146+112_146+113insAAATGCCGG	XP_016861765.1:n.146+112_146+113insAAATGCCGG
NM_004130.4:c.608+112_608+113insAAATGCCGG MANE Select	NP_004121.2:n.608+112_608+113insAAATGCCGG
NM_001184720.2:c.608+112_608+113insAAATGCCGG	NP_001171649.1:n.608+112_608+113insAAATGCCGG
NM_001184721.2:c.608+112_608+113insAAATGCCGG	NP_001171650.1:n.608+112_608+113insAAATGCCGG