Canonical Allele Identifier: CA2665467341

Gene: TMIE

Linked Data

• gnomAD v4: 3-46705957-C-CTGTGT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46705957_46705958insTGTGT , CM000665.2:g.46705957_46705958insTGTGT	GRCh38
NC_000003.11:g.46747447_46747448insTGTGT , CM000665.1:g.46747447_46747448insTGTGT	GRCh37
NC_000003.10:g.46722451_46722452insTGTGT	NCBI36
NG_011628.1:g.9625_9626insTGTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643606.3:c.211+50_211+51insTGTGT MANE Select	ENSP00000494576.2:n.211+50_211+51insTGTGT
ENST00000644830.1:c.52+50_52+51insTGTGT	ENSP00000495111.1:n.52+50_52+51insTGTGT
ENST00000651652.1:c.109+50_109+51insTGTGT	ENSP00000498953.1:n.109+50_109+51insTGTGT
ENST00000326431.3:c.211+50_211+51insTGTGT	ENSP00000324775.3:n.211+50_211+51insTGTGT
NM_147196.2:c.211+50_211+51insTGTGT	NP_671729.2:n.211+50_211+51insTGTGT
XM_006713097.2:c.52+50_52+51insTGTGT	XP_006713160.1:n.52+50_52+51insTGTGT
XM_011533574.1:c.52+50_52+51insTGTGT	XP_011531876.1:n.52+50_52+51insTGTGT
XM_006713097.4:c.52+50_52+51insTGTGT	XP_006713160.1:n.52+50_52+51insTGTGT
XM_024453446.1:c.52+50_52+51insTGTGT	XP_024309214.1:n.52+50_52+51insTGTGT
NM_001370524.1:c.52+50_52+51insTGTGT	NP_001357453.1:n.52+50_52+51insTGTGT
NM_001370525.1:c.52+50_52+51insTGTGT	NP_001357454.1:n.52+50_52+51insTGTGT
NM_147196.3:c.211+50_211+51insTGTGT MANE Select	NP_671729.2:n.211+50_211+51insTGTGT