Canonical Allele Identifier: CA2697557766

Gene: TMC1

Linked Data

• ClinVar Variation Id: 2772096
• ClinVar RCV Id: RCV003574577

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72816204del , CM000671.2:g.72816204del	GRCh38
NC_000009.11:g.75431120del , CM000671.1:g.75431120del	GRCh37
NC_000009.10:g.74620940del	NCBI36
NG_008213.1:g.299404del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1757del MANE Select	ENSP00000297784.6:p.Met586ArgfsTer?
ENST00000644967.1:c.1319del	ENSP00000496159.1:p.Met440ArgfsTer6
ENST00000645053.1:c.1258-10665del	ENSP00000493838.1:n.1258-10665del
ENST00000645208.2:c.1757del	ENSP00000494684.1:p.Met586ArgfsTer?
ENST00000645773.1:c.1631del	ENSP00000493698.1:p.Met544ArgfsTer?
ENST00000645787.1:n.1900del
ENST00000646619.1:c.1319del	ENSP00000493726.1:p.Met440ArgfsTer?
ENST00000651183.1:c.1319del	ENSP00000498723.1:p.Met440ArgfsTer?
ENST00000297784.9:c.1757del	ENSP00000297784.5:p.Met586ArgfsTer?
ENST00000340019.4:c.1757del	ENSP00000341433.3:p.Met586ArgfsTer?
ENST00000469455.1:n.238del
ENST00000486417.5:n.381del
NM_138691.2:c.1757del	NP_619636.2:p.Met586ArgfsTer?
XM_011518213.1:c.2345del	XP_011516515.1:p.Met782ArgfsTer?
XM_017014256.1:c.1760del	XP_016869745.1:p.Met587ArgfsTer?
NM_138691.3:c.1757del MANE Select	NP_619636.2:p.Met586ArgfsTer?