Canonical Allele Identifier: CA860375315

Gene: TOR1A

Linked Data

• dbSNP Id: rs1365087229
• gnomAD v4: 9-129813780-G-GA
• MyVariant Identifiers: chr9:g.132576059_132576060insA (hg19) ; chr9:g.129813780_129813781insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129813780_129813781insA , CM000671.2:g.129813780_129813781insA	GRCh38
NC_000009.11:g.132576059_132576060insA , CM000671.1:g.132576059_132576060insA	GRCh37
NC_000009.10:g.131615880_131615881insA	NCBI36
NG_008049.1:g.15382_15383insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351698.5:c.*191_*192insT MANE Select	ENSP00000345719.4:n.*191_*192insT
ENST00000651202.1:c.*458_*459insT	ENSP00000498222.1:n.*458_*459insT
ENST00000351698.4:c.*191_*192insT	ENSP00000345719.4:n.*191_*192insT
ENST00000474192.1:n.774_775insT
NM_000113.2:c.*191_*192insT	NP_000104.1:n.*191_*192insT
XR_929731.3:n.1385_1386insT
NM_000113.3:c.*191_*192insT MANE Select	NP_000104.1:n.*191_*192insT