Canonical Allele Identifier: CA1104578118

Gene: GNGT1

Linked Data

• dbSNP Id: rs1794419959
• gnomAD v3: 7-93909064-CT-C
• gnomAD v4: 7-93909064-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.93909065del , CM000669.2:g.93909065del	GRCh38
NC_000007.13:g.93538377del , CM000669.1:g.93538377del	GRCh37
NC_000007.12:g.93376313del	NCBI36
NG_051196.1:g.7558del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248572.10:c.97-1725del MANE Select	ENSP00000248572.5:n.97-1725del
ENST00000248572.9:c.97-1725del	ENSP00000248572.5:n.97-1725del
ENST00000428834.1:c.97-418del	ENSP00000401781.1:n.97-418del
ENST00000429473.1:c.97-1725del	ENSP00000388777.1:n.97-1725del
ENST00000430875.1:c.97-418del	ENSP00000395756.1:n.97-418del
ENST00000455502.5:c.97-418del	ENSP00000395857.1:n.97-418del
NM_021955.3:c.97-1725del	NP_068774.1:n.97-1725del
NM_001329426.1:c.97-1725del	NP_001316355.1:n.97-1725del
NM_021955.4:c.97-1725del	NP_068774.1:n.97-1725del
NM_001329426.2:c.97-1725del	NP_001316355.1:n.97-1725del
NM_021955.5:c.97-1725del MANE Select	NP_068774.1:n.97-1725del