Canonical Allele Identifier: CA85517447
Community Standard Title: NM_004130.4(GYG1):c.609-164dup
Gene: GYG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.149023889dup , CM000665.2:g.149023889dup GRCh38
NC_000003.11:g.148741676dup , CM000665.1:g.148741676dup GRCh37
NC_000003.10:g.150224366dup NCBI36
NG_027677.1:g.37482dup

Transcript Alleles

HGVS Amino-acid Change
NM_004130.4:c.609-164dup MANE Select NP_004121.2:n.609-164dup
ENST00000345003.9:c.609-164dup MANE Select ENSP00000340736.4:n.609-164dup
NM_001184720.1:c.609-164dup NP_001171649.1:n.609-164dup
NM_001184720.2:c.609-164dup NP_001171649.1:n.609-164dup
NM_001184721.1:c.609-2871dup NP_001171650.1:n.609-2871dup
NM_001184721.2:c.609-2871dup NP_001171650.1:n.609-2871dup
NM_004130.3:c.609-164dup NP_004121.2:n.609-164dup
ENST00000296048.10:c.609-164dup ENSP00000296048.6:n.609-164dup
ENST00000345003.8:c.609-164dup ENSP00000340736.4:n.609-164dup
ENST00000461191.1:c.597-164dup ENSP00000420247.1:n.597-164dup
ENST00000469873.1:n.523-164dup
ENST00000479119.1:n.225-2871dup
ENST00000483267.5:c.470-164dup ENSP00000419499.1:n.470-164dup
ENST00000484197.5:c.609-2871dup ENSP00000420683.1:n.609-2871dup
ENST00000627418.2:c.470-164dup ENSP00000486061.1:n.470-164dup
XM_017006275.1:c.432-164dup XP_016861764.1:n.432-164dup
XM_017006276.1:c.147-164dup XP_016861765.1:n.147-164dup