Canonical Allele Identifier: CA162363496

Gene: GNGT1

Linked Data

• dbSNP Id: rs528086886
• gnomAD v2: 7-93538328-AG-A
• gnomAD v3: 7-93909016-AG-A
• gnomAD v4: 7-93909016-AG-A
• MyVariant Identifiers: chr7:g.93538329del (hg19) ; chr7:g.93909017del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.93909017del , CM000669.2:g.93909017del	GRCh38
NC_000007.13:g.93538329del , CM000669.1:g.93538329del	GRCh37
NC_000007.12:g.93376265del	NCBI36
NG_051196.1:g.7510del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248572.10:c.97-1773del MANE Select	ENSP00000248572.5:n.97-1773del
ENST00000248572.9:c.97-1773del	ENSP00000248572.5:n.97-1773del
ENST00000428834.1:c.97-466del	ENSP00000401781.1:n.97-466del
ENST00000429473.1:c.97-1773del	ENSP00000388777.1:n.97-1773del
ENST00000430875.1:c.97-466del	ENSP00000395756.1:n.97-466del
ENST00000455502.5:c.97-466del	ENSP00000395857.1:n.97-466del
NM_021955.3:c.97-1773del	NP_068774.1:n.97-1773del
NM_001329426.1:c.97-1773del	NP_001316355.1:n.97-1773del
NM_021955.4:c.97-1773del	NP_068774.1:n.97-1773del
NM_001329426.2:c.97-1773del	NP_001316355.1:n.97-1773del
NM_021955.5:c.97-1773del MANE Select	NP_068774.1:n.97-1773del