Canonical Allele Identifier: CA2784604586
Gene: TMC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.72821179_72821180insCACCC , CM000671.2:g.72821179_72821180insCACCC GRCh38
NC_000009.11:g.75436095_75436096insCACCC , CM000671.1:g.75436095_75436096insCACCC GRCh37
NC_000009.10:g.74625915_74625916insCACCC NCBI36
NG_008213.1:g.304379_304380insCACCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000297784.10:c.2003+98_2003+99insCACCC MANE Select ENSP00000297784.6:n.2003+98_2003+99insCACCC
ENST00000644967.1:c.*443+98_*443+99insCACCC ENSP00000496159.1:n.*443+98_*443+99insCACCC
ENST00000645053.1:c.1258-5690_1258-5689insCACCC ENSP00000493838.1:n.1258-5690_1258-5689insCACCC
ENST00000645208.2:c.2003+98_2003+99insCACCC ENSP00000494684.1:n.2003+98_2003+99insCACCC
ENST00000645773.1:c.1877+98_1877+99insCACCC ENSP00000493698.1:n.1877+98_1877+99insCACCC
ENST00000645787.1:n.2146+98_2146+99insCACCC
ENST00000646619.1:c.1565+98_1565+99insCACCC ENSP00000493726.1:n.1565+98_1565+99insCACCC
ENST00000651183.1:c.1565+98_1565+99insCACCC ENSP00000498723.1:n.1565+98_1565+99insCACCC
ENST00000297784.9:c.2003+98_2003+99insCACCC ENSP00000297784.5:n.2003+98_2003+99insCACCC
ENST00000340019.4:c.2003+98_2003+99insCACCC ENSP00000341433.3:n.2003+98_2003+99insCACCC
ENST00000469455.1:n.484+98_484+99insCACCC
ENST00000486417.5:n.901+98_901+99insCACCC
NM_138691.2:c.2003+98_2003+99insCACCC NP_619636.2:n.2003+98_2003+99insCACCC
XM_011518213.1:c.2591+98_2591+99insCACCC XP_011516515.1:n.2591+98_2591+99insCACCC
XM_017014256.1:c.2006+98_2006+99insCACCC XP_016869745.1:n.2006+98_2006+99insCACCC
NM_138691.3:c.2003+98_2003+99insCACCC MANE Select NP_619636.2:n.2003+98_2003+99insCACCC