Canonical Allele Identifier: CA1104578073

Gene: GNGT1

Linked Data

• dbSNP Id: rs1794417728
• gnomAD v3: 7-93908899-CCTGTGCCT-C
• gnomAD v4: 7-93908899-CCTGTGCCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.93908904_93908911del , CM000669.2:g.93908904_93908911del	GRCh38
NC_000007.13:g.93538216_93538223del , CM000669.1:g.93538216_93538223del	GRCh37
NC_000007.12:g.93376152_93376159del	NCBI36
NG_051196.1:g.7397_7404del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248572.10:c.97-1886_97-1879del MANE Select	ENSP00000248572.5:n.97-1886_97-1879del
ENST00000248572.9:c.97-1886_97-1879del	ENSP00000248572.5:n.97-1886_97-1879del
ENST00000428834.1:c.97-579_97-572del	ENSP00000401781.1:n.97-579_97-572del
ENST00000429473.1:c.97-1886_97-1879del	ENSP00000388777.1:n.97-1886_97-1879del
ENST00000430875.1:c.97-579_97-572del	ENSP00000395756.1:n.97-579_97-572del
ENST00000455502.5:c.97-579_97-572del	ENSP00000395857.1:n.97-579_97-572del
NM_021955.3:c.97-1886_97-1879del	NP_068774.1:n.97-1886_97-1879del
NM_001329426.1:c.97-1886_97-1879del	NP_001316355.1:n.97-1886_97-1879del
NM_021955.4:c.97-1886_97-1879del	NP_068774.1:n.97-1886_97-1879del
NM_001329426.2:c.97-1886_97-1879del	NP_001316355.1:n.97-1886_97-1879del
NM_021955.5:c.97-1886_97-1879del MANE Select	NP_068774.1:n.97-1886_97-1879del