Canonical Allele Identifier: CA2739290164

Gene: TMC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72700593_72700606del , CM000671.2:g.72700593_72700606del	GRCh38
NC_000009.11:g.75315509_75315522del , CM000671.1:g.75315509_75315522del	GRCh37
NC_000009.10:g.74505329_74505342del	NCBI36
NG_008213.1:g.183793_183806del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.312_325del MANE Select	ENSP00000297784.6:p.Val106MetfsTer8
ENST00000644967.1:c.-77+5879_-77+5892del	ENSP00000496159.1:n.-77+5879_-77+5892del
ENST00000645053.1:c.-77+5879_-77+5892del	ENSP00000493838.1:n.-77+5879_-77+5892del
ENST00000645208.2:c.312_325del	ENSP00000494684.1:p.Val106MetfsTer8
ENST00000645773.1:c.236+5879_236+5892del	ENSP00000493698.1:n.236+5879_236+5892del
ENST00000645787.1:n.352_365del
ENST00000646244.1:n.762_775del
ENST00000646619.1:c.-77+5879_-77+5892del	ENSP00000493726.1:n.-77+5879_-77+5892del
ENST00000650689.1:n.660+5879_660+5892del
ENST00000651183.1:c.-77+5879_-77+5892del	ENSP00000498723.1:n.-77+5879_-77+5892del
ENST00000297784.9:c.312_325del	ENSP00000297784.5:p.Val106MetfsTer8
ENST00000340019.4:c.312_325del	ENSP00000341433.3:p.Val106MetfsTer8
NM_138691.2:c.312_325del	NP_619636.2:p.Val106MetfsTer8
XM_011518213.1:c.900_913del	XP_011516515.1:p.Val302MetfsTer8
XM_017014256.1:c.315_328del	XP_016869745.1:p.Val107MetfsTer8
NM_138691.3:c.312_325del MANE Select	NP_619636.2:p.Val106MetfsTer8