Canonical Allele Identifier: CA2358020

Gene: TMIE

Linked Data

• ClinVar Variation Id: 515000
• ClinVar RCV Id: RCV001698041 ; RCV003953070
• dbSNP Id: rs10578999
• ExAC: 3:46751073 T / TAAGAAG
• gnomAD v2: 3-46751073-T-TAAGAAG
• gnomAD v3: 3-46709583-T-TAAGAAG
• gnomAD v4: 3-46709583-T-TAAGAAG
• MyVariant Identifiers: chr3:g.46751095_46751100dup (hg19) ; chr3:g.46751082_46751083insAAGAAG (hg19) ; chr3:g.46751073_46751074insAAGAAG (hg19) ; chr3:g.46709605_46709610dup (hg38) ; chr3:g.46709592_46709593insAAGAAG (hg38) ; chr3:g.46709583_46709584insAAGAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46709605_46709610dup , CM000665.2:g.46709605_46709610dup	GRCh38
NC_000003.11:g.46751095_46751100dup , CM000665.1:g.46751095_46751100dup	GRCh37
NC_000003.10:g.46726099_46726104dup	NCBI36
NG_011628.1:g.13273_13278dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643606.3:c.388_393dup MANE Select	ENSP00000494576.2:p.Lys131_Asp132insLysLys
ENST00000644830.1:c.229_234dup	ENSP00000495111.1:p.Lys78_Asp79insLysLys
ENST00000651652.1:c.589_594dup	ENSP00000498953.1:n.589_594dup
ENST00000326431.3:c.388_393dup	ENSP00000324775.3:p.Lys131_Asp132insLysLys
NM_147196.2:c.388_393dup	NP_671729.2:p.Lys131_Asp132insLysLys
XM_006713097.2:c.229_234dup	XP_006713160.1:p.Lys78_Asp79insLysLys
XM_011533574.1:c.229_234dup	XP_011531876.1:p.Lys78_Asp79insLysLys
XM_006713097.4:c.229_234dup	XP_006713160.1:p.Lys78_Asp79insLysLys
XM_024453446.1:c.229_234dup	XP_024309214.1:p.Lys78_Asp79insLysLys
NM_001370524.1:c.229_234dup	NP_001357453.1:p.Lys78_Asp79insLysLys
NM_001370525.1:c.229_234dup	NP_001357454.1:p.Lys78_Asp79insLysLys
NM_147196.3:c.388_393dup MANE Select	NP_671729.2:p.Lys131_Asp132insLysLys