Canonical Allele Identifier: CA2668126570

Gene: GYG1

Linked Data

• gnomAD v4: 3-149009514-TGAGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149009515_149009518del , CM000665.2:g.149009515_149009518del	GRCh38
NC_000003.11:g.148727302_148727305del , CM000665.1:g.148727302_148727305del	GRCh37
NC_000003.10:g.150209992_150209995del	NCBI36
NG_027677.1:g.23108_23111del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000345003.9:c.608+113_608+116del MANE Select	ENSP00000340736.4:n.608+113_608+116del
ENST00000296048.10:c.608+113_608+116del	ENSP00000296048.6:n.608+113_608+116del
ENST00000345003.8:c.608+113_608+116del	ENSP00000340736.4:n.608+113_608+116del
ENST00000461191.1:c.596+113_596+116del	ENSP00000420247.1:n.596+113_596+116del
ENST00000469873.1:n.522+113_522+116del
ENST00000479119.1:n.224+113_224+116del
ENST00000483267.5:c.469+12623_469+12626del	ENSP00000419499.1:n.469+12623_469+12626del
ENST00000484197.5:c.608+113_608+116del	ENSP00000420683.1:n.608+113_608+116del
ENST00000627418.2:c.469+12623_469+12626del	ENSP00000486061.1:n.469+12623_469+12626del
NM_001184720.1:c.608+113_608+116del	NP_001171649.1:n.608+113_608+116del
NM_001184721.1:c.608+113_608+116del	NP_001171650.1:n.608+113_608+116del
NM_004130.3:c.608+113_608+116del	NP_004121.2:n.608+113_608+116del
XM_017006275.1:c.431+113_431+116del	XP_016861764.1:n.431+113_431+116del
XM_017006276.1:c.146+113_146+116del	XP_016861765.1:n.146+113_146+116del
NM_004130.4:c.608+113_608+116del MANE Select	NP_004121.2:n.608+113_608+116del
NM_001184720.2:c.608+113_608+116del	NP_001171649.1:n.608+113_608+116del
NM_001184721.2:c.608+113_608+116del	NP_001171650.1:n.608+113_608+116del