Canonical Allele Identifier: CA5082044

Gene: TMC1

Linked Data

• ClinVar Variation Id: 1186968
• ClinVar RCV Id: RCV001546248
• dbSNP Id: rs563515255
• ExAC: 9:75431044 TTG / T
• gnomAD v2: 9-75431044-TTG-T
• gnomAD v3: 9-72816128-TTG-T
• gnomAD v4: 9-72816128-TTG-T
• MyVariant Identifiers: chr9:g.75431045_75431046del (hg19) ; chr9:g.72816129_72816130del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72816132_72816133del , CM000671.2:g.72816132_72816133del	GRCh38
NC_000009.11:g.75431048_75431049del , CM000671.1:g.75431048_75431049del	GRCh37
NC_000009.10:g.74620868_74620869del	NCBI36
NG_008213.1:g.299332_299333del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1696-11_1696-10del MANE Select	ENSP00000297784.6:n.1696-11_1696-10del
ENST00000644967.1:c.1258-11_1258-10del	ENSP00000496159.1:n.1258-11_1258-10del
ENST00000645053.1:c.1257+10622_1257+10623del	ENSP00000493838.1:n.1257+10622_1257+10623del
ENST00000645208.2:c.1696-11_1696-10del	ENSP00000494684.1:n.1696-11_1696-10del
ENST00000645773.1:c.1570-11_1570-10del	ENSP00000493698.1:n.1570-11_1570-10del
ENST00000645787.1:n.1839-11_1839-10del
ENST00000646619.1:c.1258-11_1258-10del	ENSP00000493726.1:n.1258-11_1258-10del
ENST00000651183.1:c.1258-11_1258-10del	ENSP00000498723.1:n.1258-11_1258-10del
ENST00000297784.9:c.1696-11_1696-10del	ENSP00000297784.5:n.1696-11_1696-10del
ENST00000340019.4:c.1696-11_1696-10del	ENSP00000341433.3:n.1696-11_1696-10del
ENST00000469455.1:n.177-11_177-10del
ENST00000486417.5:n.320-11_320-10del
NM_138691.2:c.1696-11_1696-10del	NP_619636.2:n.1696-11_1696-10del
XM_011518213.1:c.2284-11_2284-10del	XP_011516515.1:n.2284-11_2284-10del
XM_017014256.1:c.1699-11_1699-10del	XP_016869745.1:n.1699-11_1699-10del
NM_138691.3:c.1696-11_1696-10del MANE Select	NP_619636.2:n.1696-11_1696-10del