Canonical Allele Identifier: CA2586972487

Gene: TMIE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46705897del , CM000665.2:g.46705897del	GRCh38
NC_000003.11:g.46747387del , CM000665.1:g.46747387del	GRCh37
NC_000003.10:g.46722391del	NCBI36
NG_011628.1:g.9565del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643606.3:c.201del MANE Select	ENSP00000494576.2:p.Leu68CysfsTer?
ENST00000644830.1:c.42del	ENSP00000495111.1:p.Leu15CysfsTer?
ENST00000651652.1:c.99del	ENSP00000498953.1:p.Leu34CysfsTer?
ENST00000326431.3:c.201del	ENSP00000324775.3:p.Leu68CysfsTer?
NM_147196.2:c.201del	NP_671729.2:p.Leu68CysfsTer?
XM_006713097.2:c.42del	XP_006713160.1:p.Leu15CysfsTer?
XM_011533574.1:c.42del	XP_011531876.1:p.Leu15CysfsTer?
XM_006713097.4:c.42del	XP_006713160.1:p.Leu15CysfsTer?
XM_024453446.1:c.42del	XP_024309214.1:p.Leu15CysfsTer?
NM_001370524.1:c.42del	NP_001357453.1:p.Leu15CysfsTer?
NM_001370525.1:c.42del	NP_001357454.1:p.Leu15CysfsTer?
NM_147196.3:c.201del MANE Select	NP_671729.2:p.Leu68CysfsTer?