Canonical Allele Identifier: CA2580068597

Gene: TIMMDC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119498924_119498925del , CM000665.2:g.119498924_119498925del	GRCh38
NC_000003.11:g.119217771_119217772del , CM000665.1:g.119217771_119217772del	GRCh37
NC_000003.10:g.120700461_120700462del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_016589.4:c.191_192del MANE Select	NP_057673.2:p.Lys64ArgfsTer2
ENST00000494664.6:c.191_192del MANE Select	ENSP00000418803.1:p.Lys64ArgfsTer2
NM_016589.3:c.191_192del	NP_057673.2:p.Lys64ArgfsTer2
ENST00000264244.7:c.191_192del	ENSP00000264244.3:p.Lys64ArgfsTer2
ENST00000463927.6:c.191_192del	ENSP00000417205.2:p.Lys64ArgfsTer7
ENST00000466984.1:c.191_192del	ENSP00000420122.1:p.Lys64ArgfsTer6
ENST00000486418.5:c.191_192del	ENSP00000417083.1:p.Lys64ArgfsTer10
ENST00000492164.5:c.191_192del	ENSP00000418846.1:p.Lys64ArgfsTer?
ENST00000493694.1:c.191_192del	ENSP00000419510.1:p.Lys64ArgfsTer17
ENST00000494664.5:c.191_192del	ENSP00000418803.1:p.Lys64ArgfsTer2
ENST00000498399.1:c.108_109del
XM_017006556.1:c.191_192del	XP_016862045.1:p.Lys64ArgfsTer17