Canonical Allele Identifier: CA1410031550

Gene: GYG1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149009711_149009721delinsCAACTTGGAGG , CM000665.2:g.149009711_149009721delinsCAACTTGGAGG	GRCh38
NC_000003.11:g.148727498_148727508delinsCAACTTGGAGG , CM000665.1:g.148727498_148727508delinsCAACTTGGAGG	GRCh37
NC_000003.10:g.150210188_150210198delinsCAACTTGGAGG	NCBI36
NG_027677.1:g.23304_23314delinsCAACTTGGAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000345003.9:c.608+309_608+319delinsCAACTTGGAGG MANE Select	ENSP00000340736.4:n.608+309_608+319delinsCAACTTGGAGG
ENST00000296048.10:c.608+309_608+319delinsCAACTTGGAGG	ENSP00000296048.6:n.608+309_608+319delinsCAACTTGGAGG
ENST00000345003.8:c.608+309_608+319delinsCAACTTGGAGG	ENSP00000340736.4:n.608+309_608+319delinsCAACTTGGAGG
ENST00000461191.1:c.596+309_596+319delinsCAACTTGGAGG	ENSP00000420247.1:n.596+309_596+319delinsCAACTTGGAGG
ENST00000469873.1:n.522+309_522+319delinsCAACTTGGAGG
ENST00000479119.1:n.224+309_224+319delinsCAACTTGGAGG
ENST00000483267.5:c.469+12819_469+12829delinsCAACTTGGAGG	ENSP00000419499.1:n.469+12819_469+12829delinsCAACTTGGAGG
ENST00000484197.5:c.608+309_608+319delinsCAACTTGGAGG	ENSP00000420683.1:n.608+309_608+319delinsCAACTTGGAGG
ENST00000627418.2:c.469+12819_469+12829delinsCAACTTGGAGG	ENSP00000486061.1:n.469+12819_469+12829delinsCAACTTGGAGG
NM_001184720.1:c.608+309_608+319delinsCAACTTGGAGG	NP_001171649.1:n.608+309_608+319delinsCAACTTGGAGG
NM_001184721.1:c.608+309_608+319delinsCAACTTGGAGG	NP_001171650.1:n.608+309_608+319delinsCAACTTGGAGG
NM_004130.3:c.608+309_608+319delinsCAACTTGGAGG	NP_004121.2:n.608+309_608+319delinsCAACTTGGAGG
XM_017006275.1:c.431+309_431+319delinsCAACTTGGAGG	XP_016861764.1:n.431+309_431+319delinsCAACTTGGAGG
XM_017006276.1:c.146+309_146+319delinsCAACTTGGAGG	XP_016861765.1:n.146+309_146+319delinsCAACTTGGAGG
NM_004130.4:c.608+309_608+319delinsCAACTTGGAGG MANE Select	NP_004121.2:n.608+309_608+319delinsCAACTTGGAGG
NM_001184720.2:c.608+309_608+319delinsCAACTTGGAGG	NP_001171649.1:n.608+309_608+319delinsCAACTTGGAGG
NM_001184721.2:c.608+309_608+319delinsCAACTTGGAGG	NP_001171650.1:n.608+309_608+319delinsCAACTTGGAGG