Canonical Allele Identifier: CA866646255

Gene: TMC1

Linked Data

• dbSNP Id: rs1351647363
• gnomAD v3: 9-72700562-CAG-C
• gnomAD v4: 9-72700562-CAG-C
• MyVariant Identifiers: chr9:g.75315479_75315480del (hg19) ; chr9:g.72700563_72700564del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72700565_72700566del , CM000671.2:g.72700565_72700566del	GRCh38
NC_000009.11:g.75315481_75315482del , CM000671.1:g.75315481_75315482del	GRCh37
NC_000009.10:g.74505301_74505302del	NCBI36
NG_008213.1:g.183765_183766del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.284_285del MANE Select	ENSP00000297784.6:p.Glu95ValfsTer3
ENST00000644967.1:c.-77+5851_-77+5852del	ENSP00000496159.1:n.-77+5851_-77+5852del
ENST00000645053.1:c.-77+5851_-77+5852del	ENSP00000493838.1:n.-77+5851_-77+5852del
ENST00000645208.2:c.284_285del	ENSP00000494684.1:p.Glu95ValfsTer3
ENST00000645773.1:c.236+5851_236+5852del	ENSP00000493698.1:n.236+5851_236+5852del
ENST00000645787.1:n.324_325del
ENST00000646244.1:n.734_735del
ENST00000646619.1:c.-77+5851_-77+5852del	ENSP00000493726.1:n.-77+5851_-77+5852del
ENST00000650689.1:n.660+5851_660+5852del
ENST00000651183.1:c.-77+5851_-77+5852del	ENSP00000498723.1:n.-77+5851_-77+5852del
ENST00000297784.9:c.284_285del	ENSP00000297784.5:p.Glu95ValfsTer3
ENST00000340019.4:c.284_285del	ENSP00000341433.3:p.Glu95ValfsTer3
NM_138691.2:c.284_285del	NP_619636.2:p.Glu95ValfsTer3
XM_011518213.1:c.872_873del	XP_011516515.1:p.Glu291ValfsTer3
XM_017014256.1:c.287_288del	XP_016869745.1:p.Glu96ValfsTer3
NM_138691.3:c.284_285del MANE Select	NP_619636.2:p.Glu95ValfsTer3