Canonical Allele Identifier: CA1855120735

Gene: TMC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72821066_72821068delinsATT , CM000671.2:g.72821066_72821068delinsATT	GRCh38
NC_000009.11:g.75435982_75435984delinsATT , CM000671.1:g.75435982_75435984delinsATT	GRCh37
NC_000009.10:g.74625802_74625804delinsATT	NCBI36
NG_008213.1:g.304266_304268delinsATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1988_1990delinsATT MANE Select	ENSP00000297784.6:p.Asp663=
ENST00000644967.1:c.*428_*430delinsATT	ENSP00000496159.1:n.*428_*430delinsATT
ENST00000645053.1:c.1258-5803_1258-5801delinsATT	ENSP00000493838.1:n.1258-5803_1258-5801delinsATT
ENST00000645208.2:c.1988_1990delinsATT	ENSP00000494684.1:p.Asp663=
ENST00000645773.1:c.1862_1864delinsATT	ENSP00000493698.1:p.Asp621=
ENST00000645787.1:n.2131_2133delinsATT
ENST00000646619.1:c.1550_1552delinsATT	ENSP00000493726.1:p.Asp517=
ENST00000651183.1:c.1550_1552delinsATT	ENSP00000498723.1:p.Asp517=
ENST00000297784.9:c.1988_1990delinsATT	ENSP00000297784.5:p.Asp663=
ENST00000340019.4:c.1988_1990delinsATT	ENSP00000341433.3:p.Asp663=
ENST00000469455.1:n.469_471delinsATT
ENST00000486417.5:n.886_888delinsATT
NM_138691.2:c.1988_1990delinsATT	NP_619636.2:p.Asp663=
XM_011518213.1:c.2576_2578delinsATT	XP_011516515.1:p.Asp859=
XM_017014256.1:c.1991_1993delinsATT	XP_016869745.1:p.Asp664=
NM_138691.3:c.1988_1990delinsATT MANE Select	NP_619636.2:p.Asp663=