Canonical Allele Identifier: CA142073

Gene: TMC1

Linked Data

• ClinVar Variation Id: 47870
• ClinVar RCV Id: RCV000041140 ; RCV000344685 ; RCV000392033 ; RCV001575375
• dbSNP Id: rs376040866
• ExAC: 9:75315433 GAGA / G
• gnomAD v2: 9-75315433-GAGA-G
• gnomAD v3: 9-72700517-GAGA-G
• gnomAD v4: 9-72700517-GAGA-G
• COSMIC: COSM1684170 ; COSM4776358
• MyVariant Identifiers: chr9:g.75315444_75315446del (hg19) ; chr9:g.75315434_75315436del (hg19) ; chr9:g.72700528_72700530del (hg38) ; chr9:g.72700519_72700521del (hg38) ; chr9:g.72700518_72700520del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72700528_72700530del , CM000671.2:g.72700528_72700530del	GRCh38
NC_000009.11:g.75315444_75315446del , CM000671.1:g.75315444_75315446del	GRCh37
NC_000009.10:g.74505264_74505266del	NCBI36
NG_008213.1:g.183728_183730del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.247_249del MANE Select	ENSP00000297784.6:p.Glu83del
ENST00000644967.1:c.-77+5814_-77+5816del	ENSP00000496159.1:n.-77+5814_-77+5816del
ENST00000645053.1:c.-77+5814_-77+5816del	ENSP00000493838.1:n.-77+5814_-77+5816del
ENST00000645208.2:c.247_249del	ENSP00000494684.1:p.Glu83del
ENST00000645773.1:c.236+5814_236+5816del	ENSP00000493698.1:n.236+5814_236+5816del
ENST00000645787.1:n.287_289del
ENST00000646244.1:n.697_699del
ENST00000646619.1:c.-77+5814_-77+5816del	ENSP00000493726.1:n.-77+5814_-77+5816del
ENST00000650689.1:n.660+5814_660+5816del
ENST00000651183.1:c.-77+5814_-77+5816del	ENSP00000498723.1:n.-77+5814_-77+5816del
ENST00000297784.9:c.247_249del	ENSP00000297784.5:p.Glu83del
ENST00000340019.4:c.247_249del	ENSP00000341433.3:p.Glu83del
NM_138691.2:c.247_249del	NP_619636.2:p.Glu83del
XM_011518213.1:c.835_837del	XP_011516515.1:p.Glu279del
XM_017014256.1:c.250_252del	XP_016869745.1:p.Glu84del
NM_138691.3:c.247_249del MANE Select	NP_619636.2:p.Glu83del