Canonical Allele Identifier: CA2668125299

Gene: GYG1

Linked Data

• gnomAD v4: 3-148996879-TGCTTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.148996880_148996884del , CM000665.2:g.148996880_148996884del	GRCh38
NC_000003.11:g.148714667_148714671del , CM000665.1:g.148714667_148714671del	GRCh37
NC_000003.10:g.150197357_150197361del	NCBI36
NG_027677.1:g.10473_10477del

Transcript Alleles

HGVS	Amino-acid change
ENST00000345003.9:c.457_461del MANE Select	ENSP00000340736.4:p.Ala153Ter
ENST00000296048.10:c.457_461del	ENSP00000296048.6:p.Ala153Ter
ENST00000345003.8:c.457_461del	ENSP00000340736.4:p.Ala153Ter
ENST00000461191.1:c.457_461del	ENSP00000420247.1:p.Ala153Ter
ENST00000483267.5:c.457_461del	ENSP00000419499.1:p.Ala153Ter
ENST00000484197.5:c.457_461del	ENSP00000420683.1:p.Ala153Ter
ENST00000492285.6:c.319_323del	ENSP00000418297.2:p.Ala107Ter
ENST00000497528.5:n.50_54del
ENST00000627418.2:c.457_461del	ENSP00000486061.1:p.Ala153Ter
NM_001184720.1:c.457_461del	NP_001171649.1:p.Ala153Ter
NM_001184721.1:c.457_461del	NP_001171650.1:p.Ala153Ter
NM_004130.3:c.457_461del	NP_004121.2:p.Ala153Ter
XM_017006275.1:c.280_284del	XP_016861764.1:p.Ala94Ter
NM_004130.4:c.457_461del MANE Select	NP_004121.2:p.Ala153Ter
NM_001184720.2:c.457_461del	NP_001171649.1:p.Ala153Ter
NM_001184721.2:c.457_461del	NP_001171650.1:p.Ala153Ter