Canonical Allele Identifier: CA16044082

Gene: TMC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72700579del , CM000671.2:g.72700579del	GRCh38
NC_000009.11:g.75315495del , CM000671.1:g.75315495del	GRCh37
NC_000009.10:g.74505315del	NCBI36
NG_008213.1:g.183779del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.298del MANE Select	ENSP00000297784.6:p.Arg100AspfsTer3
ENST00000644967.1:c.-77+5865del	ENSP00000496159.1:n.-77+5865del
ENST00000645053.1:c.-77+5865del	ENSP00000493838.1:n.-77+5865del
ENST00000645208.2:c.298del	ENSP00000494684.1:p.Arg100AspfsTer3
ENST00000645773.1:c.236+5865del	ENSP00000493698.1:n.236+5865del
ENST00000645787.1:n.338del
ENST00000646244.1:n.748del
ENST00000646619.1:c.-77+5865del	ENSP00000493726.1:n.-77+5865del
ENST00000650689.1:n.660+5865del
ENST00000651183.1:c.-77+5865del	ENSP00000498723.1:n.-77+5865del
ENST00000297784.9:c.298del	ENSP00000297784.5:p.Arg100AspfsTer3
ENST00000340019.4:c.298del	ENSP00000341433.3:p.Arg100AspfsTer3
NM_138691.2:c.298del	NP_619636.2:p.Arg100AspfsTer3
XM_011518213.1:c.886del	XP_011516515.1:p.Arg296AspfsTer3
XM_017014256.1:c.301del	XP_016869745.1:p.Arg101AspfsTer3
NM_138691.3:c.298del MANE Select	NP_619636.2:p.Arg100AspfsTer3