Canonical Allele Identifier: CA193350434

Gene: TMC1

Linked Data

• ClinVar Variation Id: 1239752
• ClinVar RCV Id: RCV001637716
• dbSNP Id: rs72200654
• gnomAD v2: 9-75315629-CATAT-C
• gnomAD v3: 9-72700713-CATAT-C
• gnomAD v4: 9-72700713-CATAT-C
• MyVariant Identifiers: chr9:g.75315634_75315637del (hg19) ; chr9:g.75315630_75315633del (hg19) ; chr9:g.72700718_72700721del (hg38) ; chr9:g.72700714_72700717del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72700741_72700744del , CM000671.2:g.72700741_72700744del	GRCh38
NC_000009.11:g.75315657_75315660del , CM000671.1:g.75315657_75315660del	GRCh37
NC_000009.10:g.74505477_74505480del	NCBI36
NG_008213.1:g.183941_183944del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.362+98_362+101del MANE Select	ENSP00000297784.6:n.362+98_362+101del
ENST00000644967.1:c.-77+6027_-77+6030del	ENSP00000496159.1:n.-77+6027_-77+6030del
ENST00000645053.1:c.-77+6027_-77+6030del	ENSP00000493838.1:n.-77+6027_-77+6030del
ENST00000645208.2:c.362+98_362+101del	ENSP00000494684.1:n.362+98_362+101del
ENST00000645773.1:c.236+6027_236+6030del	ENSP00000493698.1:n.236+6027_236+6030del
ENST00000645787.1:n.402+98_402+101del
ENST00000646619.1:c.-77+6027_-77+6030del	ENSP00000493726.1:n.-77+6027_-77+6030del
ENST00000650689.1:n.660+6027_660+6030del
ENST00000651183.1:c.-77+6027_-77+6030del	ENSP00000498723.1:n.-77+6027_-77+6030del
ENST00000297784.9:c.362+98_362+101del	ENSP00000297784.5:n.362+98_362+101del
ENST00000340019.4:c.362+98_362+101del	ENSP00000341433.3:n.362+98_362+101del
NM_138691.2:c.362+98_362+101del	NP_619636.2:n.362+98_362+101del
XM_011518213.1:c.950+98_950+101del	XP_011516515.1:n.950+98_950+101del
XM_017014256.1:c.365+98_365+101del	XP_016869745.1:n.365+98_365+101del
NM_138691.3:c.362+98_362+101del MANE Select	NP_619636.2:n.362+98_362+101del