Canonical Allele Identifier: CA10575478
Gene: TMIE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.46705818_46705821del , CM000665.2:g.46705818_46705821del GRCh38
NC_000003.11:g.46747308_46747311del , CM000665.1:g.46747308_46747311del GRCh37
NC_000003.10:g.46722312_46722315del NCBI36
NG_011628.1:g.9486_9489del

Transcript Alleles

HGVS Amino-acid Change
ENST00000643606.3:c.122_125del MANE Select ENSP00000494576.2:p.Pro41LeufsTer3
ENST00000644830.1:c.-38_-35del ENSP00000495111.1:n.-38_-35del
ENST00000651652.1:c.20_23del ENSP00000498953.1:p.Pro7LeufsTer3
ENST00000326431.3:c.122_125del ENSP00000324775.3:p.Pro41LeufsTer3
NM_147196.2:c.122_125del NP_671729.2:p.Pro41LeufsTer3
XM_006713097.2:c.-38_-35del XP_006713160.1:n.-38_-35del
XM_011533574.1:c.-38_-35del XP_011531876.1:n.-38_-35del
XM_006713097.4:c.-38_-35del XP_006713160.1:n.-38_-35del
XM_024453446.1:c.-38_-35del XP_024309214.1:n.-38_-35del
NM_001370524.1:c.-38_-35del NP_001357453.1:n.-38_-35del
NM_001370525.1:c.-38_-35del NP_001357454.1:n.-38_-35del
NM_147196.3:c.122_125del MANE Select NP_671729.2:p.Pro41LeufsTer3