Canonical Allele Identifier: CA588434757

Gene: TMC1

Linked Data

• dbSNP Id: rs1012276342
• gnomAD v2: 9-75192792-ATATT-A
• gnomAD v3: 9-72577876-ATATT-A
• gnomAD v4: 9-72577876-ATATT-A
• MyVariant Identifiers: chr9:g.75192793_75192796del (hg19) ; chr9:g.72577877_72577880del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72577894_72577897del , CM000671.2:g.72577894_72577897del	GRCh38
NC_000009.11:g.75192810_75192813del , CM000671.1:g.75192810_75192813del	GRCh37
NC_000009.10:g.74382630_74382633del	NCBI36
NG_008213.1:g.61094_61097del

Transcript Alleles

HGVS	Amino-acid change
ENST00000297784.10:c.-427-8_-427-5del MANE Select	ENSP00000297784.6:n.-427-8_-427-5del
ENST00000643676.1:n.307-38474_307-38471del
ENST00000645208.2:c.-435_-432del	ENSP00000494684.1:n.-435_-432del
ENST00000650689.1:n.66-8_66-5del
ENST00000651183.1:c.-528-8_-528-5del	ENSP00000498723.1:n.-528-8_-528-5del
ENST00000651743.1:n.116-8_116-5del
ENST00000297784.9:c.-427-8_-427-5del	ENSP00000297784.5:n.-427-8_-427-5del
ENST00000497073.1:n.107_110del
NM_138691.2:c.-427-8_-427-5del	NP_619636.2:n.-427-8_-427-5del
NM_138691.3:c.-427-8_-427-5del MANE Select	NP_619636.2:n.-427-8_-427-5del