Canonical Allele Identifier: CA1855120755

Gene: TMC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72821088_72821089delinsTG , CM000671.2:g.72821088_72821089delinsTG	GRCh38
NC_000009.11:g.75436004_75436005delinsTG , CM000671.1:g.75436004_75436005delinsTG	GRCh37
NC_000009.10:g.74625824_74625825delinsTG	NCBI36
NG_008213.1:g.304288_304289delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.2003+7_2003+8delinsTG MANE Select	ENSP00000297784.6:n.2003+7_2003+8delinsTG
ENST00000644967.1:c.*443+7_*443+8delinsTG	ENSP00000496159.1:n.*443+7_*443+8delinsTG
ENST00000645053.1:c.1258-5781_1258-5780delinsTG	ENSP00000493838.1:n.1258-5781_1258-5780delinsTG
ENST00000645208.2:c.2003+7_2003+8delinsTG	ENSP00000494684.1:n.2003+7_2003+8delinsTG
ENST00000645773.1:c.1877+7_1877+8delinsTG	ENSP00000493698.1:n.1877+7_1877+8delinsTG
ENST00000645787.1:n.2146+7_2146+8delinsTG
ENST00000646619.1:c.1565+7_1565+8delinsTG	ENSP00000493726.1:n.1565+7_1565+8delinsTG
ENST00000651183.1:c.1565+7_1565+8delinsTG	ENSP00000498723.1:n.1565+7_1565+8delinsTG
ENST00000297784.9:c.2003+7_2003+8delinsTG	ENSP00000297784.5:n.2003+7_2003+8delinsTG
ENST00000340019.4:c.2003+7_2003+8delinsTG	ENSP00000341433.3:n.2003+7_2003+8delinsTG
ENST00000469455.1:n.484+7_484+8delinsTG
ENST00000486417.5:n.901+7_901+8delinsTG
NM_138691.2:c.2003+7_2003+8delinsTG	NP_619636.2:n.2003+7_2003+8delinsTG
XM_011518213.1:c.2591+7_2591+8delinsTG	XP_011516515.1:n.2591+7_2591+8delinsTG
XM_017014256.1:c.2006+7_2006+8delinsTG	XP_016869745.1:n.2006+7_2006+8delinsTG
NM_138691.3:c.2003+7_2003+8delinsTG MANE Select	NP_619636.2:n.2003+7_2003+8delinsTG