Canonical Allele Identifier: CA1726545626

Gene: GNGT1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.93908899_93908907delinsCCTGTGCCT , CM000669.2:g.93908899_93908907delinsCCTGTGCCT	GRCh38
NC_000007.13:g.93538211_93538219delinsCCTGTGCCT , CM000669.1:g.93538211_93538219delinsCCTGTGCCT	GRCh37
NC_000007.12:g.93376147_93376155delinsCCTGTGCCT	NCBI36
NG_051196.1:g.7392_7400delinsCCTGTGCCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000248572.10:c.97-1891_97-1883delinsCCTGTGCCT MANE Select	ENSP00000248572.5:n.97-1891_97-1883delinsCCTGTGCCT
ENST00000248572.9:c.97-1891_97-1883delinsCCTGTGCCT	ENSP00000248572.5:n.97-1891_97-1883delinsCCTGTGCCT
ENST00000428834.1:c.97-584_97-576delinsCCTGTGCCT	ENSP00000401781.1:n.97-584_97-576delinsCCTGTGCCT
ENST00000429473.1:c.97-1891_97-1883delinsCCTGTGCCT	ENSP00000388777.1:n.97-1891_97-1883delinsCCTGTGCCT
ENST00000430875.1:c.97-584_97-576delinsCCTGTGCCT	ENSP00000395756.1:n.97-584_97-576delinsCCTGTGCCT
ENST00000455502.5:c.97-584_97-576delinsCCTGTGCCT	ENSP00000395857.1:n.97-584_97-576delinsCCTGTGCCT
NM_021955.3:c.97-1891_97-1883delinsCCTGTGCCT	NP_068774.1:n.97-1891_97-1883delinsCCTGTGCCT
NM_001329426.1:c.97-1891_97-1883delinsCCTGTGCCT	NP_001316355.1:n.97-1891_97-1883delinsCCTGTGCCT
NM_021955.4:c.97-1891_97-1883delinsCCTGTGCCT	NP_068774.1:n.97-1891_97-1883delinsCCTGTGCCT
NM_001329426.2:c.97-1891_97-1883delinsCCTGTGCCT	NP_001316355.1:n.97-1891_97-1883delinsCCTGTGCCT
NM_021955.5:c.97-1891_97-1883delinsCCTGTGCCT MANE Select	NP_068774.1:n.97-1891_97-1883delinsCCTGTGCCT