Canonical Allele Identifier: CA6713518

Gene: TMTC3

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88195591_88195595del , CM000674.2:g.88195591_88195595del	GRCh38
NC_000012.11:g.88589368_88589372del , CM000674.1:g.88589368_88589372del	GRCh37
NC_000012.10:g.87113499_87113503del	NCBI36
NG_021187.1:g.58296_58300del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266712.11:c.2687_2691del MANE Select	ENSP00000266712.6:p.Lys896SerfsTer11
ENST00000266712.10:c.2687_2691del	ENSP00000266712.6:p.Lys896SerfsTer11
NM_181783.3:c.2687_2691del	NP_861448.2:p.Lys896SerfsTer11
XM_005268683.3:c.1541_1545del	XP_005268740.1:p.Lys514SerfsTer11
XM_011537980.1:c.2468_2472del	XP_011536282.1:p.Lys823SerfsTer11
XM_011537981.1:c.1454_1458del	XP_011536283.1:p.Lys485SerfsTer11
NM_001366574.1:c.2507_2511del	NP_001353503.1:p.Lys836SerfsTer11
NM_001366579.1:c.2468_2472del	NP_001353508.1:p.Lys823SerfsTer11
NM_001366580.1:c.2420_2424del	NP_001353509.1:p.Lys807SerfsTer11
NM_001366583.1:c.1994_1998del	NP_001353512.1:p.Lys665SerfsTer11
NR_159381.1:n.3020_3024del
NM_181783.4:c.2687_2691del MANE Select	NP_861448.2:p.Lys896SerfsTer11