Canonical Allele Identifier: CA2668124949

Gene: GYG1

Linked Data

• gnomAD v4: 3-148994192-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.148994193_148994194del , CM000665.2:g.148994193_148994194del	GRCh38
NC_000003.11:g.148711980_148711981del , CM000665.1:g.148711980_148711981del	GRCh37
NC_000003.10:g.150194670_150194671del	NCBI36
NG_027677.1:g.7786_7787del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000345003.9:c.59_60del MANE Select	ENSP00000340736.4:p.Leu20ArgfsTer?
ENST00000296048.10:c.59_60del	ENSP00000296048.6:p.Leu20ArgfsTer?
ENST00000345003.8:c.59_60del	ENSP00000340736.4:p.Leu20ArgfsTer?
ENST00000461191.1:c.59_60del	ENSP00000420247.1:p.Leu20ArgfsTer?
ENST00000473005.1:c.-80_-79del	ENSP00000417671.1:n.-80_-79del
ENST00000478067.1:n.160_161del
ENST00000483267.5:c.59_60del	ENSP00000419499.1:p.Leu20ArgfsTer?
ENST00000484197.5:c.59_60del	ENSP00000420683.1:p.Leu20ArgfsTer?
ENST00000492285.6:c.-80_-79del	ENSP00000418297.2:n.-80_-79del
ENST00000627418.2:c.59_60del	ENSP00000486061.1:p.Leu20ArgfsTer?
NM_001184720.1:c.59_60del	NP_001171649.1:p.Leu20ArgfsTer?
NM_001184721.1:c.59_60del	NP_001171650.1:p.Leu20ArgfsTer?
NM_004130.3:c.59_60del	NP_004121.2:p.Leu20ArgfsTer?
XM_017006275.1:c.-34-2109_-34-2108del	XP_016861764.1:n.-34-2109_-34-2108del
NM_004130.4:c.59_60del MANE Select	NP_004121.2:p.Leu20ArgfsTer?
NM_001184720.2:c.59_60del	NP_001171649.1:p.Leu20ArgfsTer?
NM_001184721.2:c.59_60del	NP_001171650.1:p.Leu20ArgfsTer?