Canonical Allele Identifier: CA2690286847

Gene: TMC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72648663del , CM000671.2:g.72648663del	GRCh38
NC_000009.11:g.75263579del , CM000671.1:g.75263579del	GRCh37
NC_000009.10:g.74453399del	NCBI36
NG_008213.1:g.131863del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.15del MANE Select	ENSP00000297784.6:p.Val6TyrfsTer?
ENST00000644967.1:c.-297+20600del	ENSP00000496159.1:n.-297+20600del
ENST00000645053.1:c.-297+20600del	ENSP00000493838.1:n.-297+20600del
ENST00000645208.2:c.15del	ENSP00000494684.1:p.Val6TyrfsTer?
ENST00000645773.1:c.15del	ENSP00000493698.1:p.Val6TyrfsTer?
ENST00000645787.1:n.44+20600del
ENST00000646244.1:n.466+20600del
ENST00000646619.1:c.-297+20600del	ENSP00000493726.1:n.-297+20600del
ENST00000650689.1:n.440+20600del
ENST00000651183.1:c.-297+32186del	ENSP00000498723.1:n.-297+32186del
ENST00000651743.1:n.557del
ENST00000297784.9:c.15del	ENSP00000297784.5:p.Val6TyrfsTer?
ENST00000340019.4:c.15del	ENSP00000341433.3:p.Val6TyrfsTer?
ENST00000492418.1:n.106del
NM_138691.2:c.15del	NP_619636.2:p.Val6TyrfsTer?
XM_011518213.1:c.604+20600del	XP_011516515.1:n.604+20600del
XM_017014256.1:c.19+32186del	XP_016869745.1:n.19+32186del
NM_138691.3:c.15del MANE Select	NP_619636.2:p.Val6TyrfsTer?