Canonical Allele Identifier: CA866640106

Gene: TMC1

Linked Data

• dbSNP Id: rs1468606007
• MyVariant Identifiers: chr9:g.75435902_75435922del (hg19) ; chr9:g.72820986_72821006del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72820989_72821009del , CM000671.2:g.72820989_72821009del	GRCh38
NC_000009.11:g.75435905_75435925del , CM000671.1:g.75435905_75435925del	GRCh37
NC_000009.10:g.74625725_74625745del	NCBI36
NG_008213.1:g.304189_304209del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1911_1931del MANE Select	ENSP00000297784.6:p.Gly638_Leu644del
ENST00000644967.1:c.*351_*371del	ENSP00000496159.1:n.*351_*371del
ENST00000645053.1:c.1258-5880_1258-5860del	ENSP00000493838.1:n.1258-5880_1258-5860del
ENST00000645208.2:c.1911_1931del	ENSP00000494684.1:p.Gly638_Leu644del
ENST00000645773.1:c.1785_1805del	ENSP00000493698.1:p.Gly596_Leu602del
ENST00000645787.1:n.2054_2074del
ENST00000646619.1:c.1473_1493del	ENSP00000493726.1:p.Gly492_Leu498del
ENST00000651183.1:c.1473_1493del	ENSP00000498723.1:p.Gly492_Leu498del
ENST00000297784.9:c.1911_1931del	ENSP00000297784.5:p.Gly638_Leu644del
ENST00000340019.4:c.1911_1931del	ENSP00000341433.3:p.Gly638_Leu644del
ENST00000469455.1:n.392_412del
ENST00000486417.5:n.809_829del
NM_138691.2:c.1911_1931del	NP_619636.2:p.Gly638_Leu644del
XM_011518213.1:c.2499_2519del	XP_011516515.1:p.Gly834_Leu840del
XM_017014256.1:c.1914_1934del	XP_016869745.1:p.Gly639_Leu645del
NM_138691.3:c.1911_1931del MANE Select	NP_619636.2:p.Gly638_Leu644del