Canonical Allele Identifier: CA194281184
Gene: TMC1 HGNC NCBI

Linked Data

dbSNP Id: rs1012276342
gnomAD v2: 9-75192792-A-ATATT
gnomAD v3: 9-72577876-A-ATATT
gnomAD v4: 9-72577876-A-ATATT
MyVariant Identifiers: chr9:g.75192796_75192797insTATT (hg19) chr9:g.75192792_75192793insTATT (hg19) chr9:g.72577880_72577881insTATT (hg38) chr9:g.72577876_72577877insTATT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.72577894_72577897dup , CM000671.2:g.72577894_72577897dup GRCh38
NC_000009.11:g.75192810_75192813dup , CM000671.1:g.75192810_75192813dup GRCh37
NC_000009.10:g.74382630_74382633dup NCBI36
NG_008213.1:g.61094_61097dup

Transcript Alleles

HGVS Amino-acid change
ENST00000297784.10:c.-427-8_-427-5dup MANE Select ENSP00000297784.6:n.-427-8_-427-5dup
ENST00000643676.1:n.307-38474_307-38471dup
ENST00000645208.2:c.-435_-432dup ENSP00000494684.1:n.-435_-432dup
ENST00000650689.1:n.66-8_66-5dup
ENST00000651183.1:c.-528-8_-528-5dup ENSP00000498723.1:n.-528-8_-528-5dup
ENST00000651743.1:n.116-8_116-5dup
ENST00000297784.9:c.-427-8_-427-5dup ENSP00000297784.5:n.-427-8_-427-5dup
ENST00000497073.1:n.107_110dup
NM_138691.2:c.-427-8_-427-5dup NP_619636.2:n.-427-8_-427-5dup
NM_138691.3:c.-427-8_-427-5dup MANE Select NP_619636.2:n.-427-8_-427-5dup
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