Canonical Allele Identifier: CA2504174486
Gene: TMIE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.46706028_46706038del , CM000665.2:g.46706028_46706038del GRCh38
NC_000003.11:g.46747518_46747528del , CM000665.1:g.46747518_46747528del GRCh37
NC_000003.10:g.46722522_46722532del NCBI36
NG_011628.1:g.9696_9706del

Transcript Alleles

HGVS Amino-acid Change
ENST00000643606.3:c.211+121_211+131del MANE Select ENSP00000494576.2:n.211+121_211+131del
ENST00000644830.1:c.52+121_52+131del ENSP00000495111.1:n.52+121_52+131del
ENST00000651652.1:c.109+121_109+131del ENSP00000498953.1:n.109+121_109+131del
ENST00000326431.3:c.211+121_211+131del ENSP00000324775.3:n.211+121_211+131del
NM_147196.2:c.211+121_211+131del NP_671729.2:n.211+121_211+131del
XM_006713097.2:c.52+121_52+131del XP_006713160.1:n.52+121_52+131del
XM_011533574.1:c.52+121_52+131del XP_011531876.1:n.52+121_52+131del
XM_006713097.4:c.52+121_52+131del XP_006713160.1:n.52+121_52+131del
XM_024453446.1:c.52+121_52+131del XP_024309214.1:n.52+121_52+131del
NM_001370524.1:c.52+121_52+131del NP_001357453.1:n.52+121_52+131del
NM_001370525.1:c.52+121_52+131del NP_001357454.1:n.52+121_52+131del
NM_147196.3:c.211+121_211+131del MANE Select NP_671729.2:n.211+121_211+131del