Canonical Allele Identifier: CA2690290024

Gene: TMC1

Linked Data

• gnomAD v4: 9-72821173-CCAAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72821177_72821180del , CM000671.2:g.72821177_72821180del	GRCh38
NC_000009.11:g.75436093_75436096del , CM000671.1:g.75436093_75436096del	GRCh37
NC_000009.10:g.74625913_74625916del	NCBI36
NG_008213.1:g.304377_304380del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.2003+96_2003+99del MANE Select	ENSP00000297784.6:n.2003+96_2003+99del
ENST00000644967.1:c.*443+96_*443+99del	ENSP00000496159.1:n.*443+96_*443+99del
ENST00000645053.1:c.1258-5692_1258-5689del	ENSP00000493838.1:n.1258-5692_1258-5689del
ENST00000645208.2:c.2003+96_2003+99del	ENSP00000494684.1:n.2003+96_2003+99del
ENST00000645773.1:c.1877+96_1877+99del	ENSP00000493698.1:n.1877+96_1877+99del
ENST00000645787.1:n.2146+96_2146+99del
ENST00000646619.1:c.1565+96_1565+99del	ENSP00000493726.1:n.1565+96_1565+99del
ENST00000651183.1:c.1565+96_1565+99del	ENSP00000498723.1:n.1565+96_1565+99del
ENST00000297784.9:c.2003+96_2003+99del	ENSP00000297784.5:n.2003+96_2003+99del
ENST00000340019.4:c.2003+96_2003+99del	ENSP00000341433.3:n.2003+96_2003+99del
ENST00000469455.1:n.484+96_484+99del
ENST00000486417.5:n.901+96_901+99del
NM_138691.2:c.2003+96_2003+99del	NP_619636.2:n.2003+96_2003+99del
XM_011518213.1:c.2591+96_2591+99del	XP_011516515.1:n.2591+96_2591+99del
XM_017014256.1:c.2006+96_2006+99del	XP_016869745.1:n.2006+96_2006+99del
NM_138691.3:c.2003+96_2003+99del MANE Select	NP_619636.2:n.2003+96_2003+99del