Canonical Allele Identifier: CA5082018

Gene: TMC1

Linked Data

• ClinVar Variation Id: 1242528
• ClinVar RCV Id: RCV001641332
• dbSNP Id: rs111880209
• ExAC: 9:75420448 CT / C
• gnomAD v2: 9-75420448-CT-C
• gnomAD v3: 9-72805532-CT-C
• gnomAD v4: 9-72805532-CT-C
• COSMIC: COSN1380861
• MyVariant Identifiers: chr9:g.75420451del (hg19) ; chr9:g.75420450del (hg19) ; chr9:g.75420449del (hg19) ; chr9:g.72805535del (hg38) ; chr9:g.72805534del (hg38) ; chr9:g.72805533del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72805546del , CM000671.2:g.72805546del	GRCh38
NC_000009.11:g.75420462del , CM000671.1:g.75420462del	GRCh37
NC_000009.10:g.74610282del	NCBI36
NG_008213.1:g.288746del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1695+36del MANE Select	ENSP00000297784.6:n.1695+36del
ENST00000644967.1:c.1257+36del	ENSP00000496159.1:n.1257+36del
ENST00000645053.1:c.1257+36del	ENSP00000493838.1:n.1257+36del
ENST00000645208.2:c.1695+36del	ENSP00000494684.1:n.1695+36del
ENST00000645773.1:c.1569+36del	ENSP00000493698.1:n.1569+36del
ENST00000645787.1:n.1838+36del
ENST00000646619.1:c.1257+36del	ENSP00000493726.1:n.1257+36del
ENST00000651183.1:c.1257+36del	ENSP00000498723.1:n.1257+36del
ENST00000297784.9:c.1695+36del	ENSP00000297784.5:n.1695+36del
ENST00000340019.4:c.1695+36del	ENSP00000341433.3:n.1695+36del
ENST00000486417.5:n.319+36del
NM_138691.2:c.1695+36del	NP_619636.2:n.1695+36del
XM_011518213.1:c.2283+36del	XP_011516515.1:n.2283+36del
XM_017014256.1:c.1698+36del	XP_016869745.1:n.1698+36del
NM_138691.3:c.1695+36del MANE Select	NP_619636.2:n.1695+36del