Canonical Allele Identifier: CA142262

Gene: TMIE

Linked Data

• ClinVar Variation Id: 47962
• ClinVar RCV Id: RCV000041234 ; RCV000755405 ; RCV001668170
• dbSNP Id: rs10578999
• ExAC: 3:46751073 TAAG / T
• gnomAD v2: 3-46751073-TAAG-T
• gnomAD v3: 3-46709583-TAAG-T
• gnomAD v4: 3-46709583-TAAG-T
• COSMIC: COSM4589991 ; COSM5446494
• MyVariant Identifiers: chr3:g.46751098_46751100del (hg19) ; chr3:g.46751080_46751082del (hg19) ; chr3:g.46751077_46751079del (hg19) ; chr3:g.46751074_46751076del (hg19) ; chr3:g.46709608_46709610del (hg38) ; chr3:g.46709590_46709592del (hg38) ; chr3:g.46709584_46709586del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46709608_46709610del , CM000665.2:g.46709608_46709610del	GRCh38
NC_000003.11:g.46751098_46751100del , CM000665.1:g.46751098_46751100del	GRCh37
NC_000003.10:g.46726102_46726104del	NCBI36
NG_011628.1:g.13276_13278del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643606.3:c.391_393del MANE Select	ENSP00000494576.2:p.Lys131del
ENST00000644830.1:c.232_234del	ENSP00000495111.1:p.Lys78del
ENST00000651652.1:c.592_594del	ENSP00000498953.1:n.592_594del
ENST00000326431.3:c.391_393del	ENSP00000324775.3:p.Lys131del
NM_147196.2:c.391_393del	NP_671729.2:p.Lys131del
XM_006713097.2:c.232_234del	XP_006713160.1:p.Lys78del
XM_011533574.1:c.232_234del	XP_011531876.1:p.Lys78del
XM_006713097.4:c.232_234del	XP_006713160.1:p.Lys78del
XM_024453446.1:c.232_234del	XP_024309214.1:p.Lys78del
NM_001370524.1:c.232_234del	NP_001357453.1:p.Lys78del
NM_001370525.1:c.232_234del	NP_001357454.1:p.Lys78del
NM_147196.3:c.391_393del MANE Select	NP_671729.2:p.Lys131del