Canonical Allele Identifier: CA1855120774

Gene: TMC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72821112_72821126delinsTCGTGTTCTTTCGGG , CM000671.2:g.72821112_72821126delinsTCGTGTTCTTTCGGG	GRCh38
NC_000009.11:g.75436028_75436042delinsTCGTGTTCTTTCGGG , CM000671.1:g.75436028_75436042delinsTCGTGTTCTTTCGGG	GRCh37
NC_000009.10:g.74625848_74625862delinsTCGTGTTCTTTCGGG	NCBI36
NG_008213.1:g.304312_304326delinsTCGTGTTCTTTCGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.2003+31_2003+45delinsTCGTGTTCTTTCGGG MANE Select	ENSP00000297784.6:n.2003+31_2003+45delinsTCGTGTTCTTTCGGG
ENST00000644967.1:c.*443+31_*443+45delinsTCGTGTTCTTTCGGG	ENSP00000496159.1:n.*443+31_*443+45delinsTCGTGTTCTTTCGGG
ENST00000645053.1:c.1258-5757_1258-5743delinsTCGTGTTCTTTCGGG	ENSP00000493838.1:n.1258-5757_1258-5743delinsTCGTGTTCTTTCGGG
ENST00000645208.2:c.2003+31_2003+45delinsTCGTGTTCTTTCGGG	ENSP00000494684.1:n.2003+31_2003+45delinsTCGTGTTCTTTCGGG
ENST00000645773.1:c.1877+31_1877+45delinsTCGTGTTCTTTCGGG	ENSP00000493698.1:n.1877+31_1877+45delinsTCGTGTTCTTTCGGG
ENST00000645787.1:n.2146+31_2146+45delinsTCGTGTTCTTTCGGG
ENST00000646619.1:c.1565+31_1565+45delinsTCGTGTTCTTTCGGG	ENSP00000493726.1:n.1565+31_1565+45delinsTCGTGTTCTTTCGGG
ENST00000651183.1:c.1565+31_1565+45delinsTCGTGTTCTTTCGGG	ENSP00000498723.1:n.1565+31_1565+45delinsTCGTGTTCTTTCGGG
ENST00000297784.9:c.2003+31_2003+45delinsTCGTGTTCTTTCGGG	ENSP00000297784.5:n.2003+31_2003+45delinsTCGTGTTCTTTCGGG
ENST00000340019.4:c.2003+31_2003+45delinsTCGTGTTCTTTCGGG	ENSP00000341433.3:n.2003+31_2003+45delinsTCGTGTTCTTTCGGG
ENST00000469455.1:n.484+31_484+45delinsTCGTGTTCTTTCGGG
ENST00000486417.5:n.901+31_901+45delinsTCGTGTTCTTTCGGG
NM_138691.2:c.2003+31_2003+45delinsTCGTGTTCTTTCGGG	NP_619636.2:n.2003+31_2003+45delinsTCGTGTTCTTTCGGG
XM_011518213.1:c.2591+31_2591+45delinsTCGTGTTCTTTCGGG	XP_011516515.1:n.2591+31_2591+45delinsTCGTGTTCTTTCGGG
XM_017014256.1:c.2006+31_2006+45delinsTCGTGTTCTTTCGGG	XP_016869745.1:n.2006+31_2006+45delinsTCGTGTTCTTTCGGG
NM_138691.3:c.2003+31_2003+45delinsTCGTGTTCTTTCGGG MANE Select	NP_619636.2:n.2003+31_2003+45delinsTCGTGTTCTTTCGGG