Canonical Allele Identifier: CA1855120808

Gene: TMC1

Linked Data

• dbSNP Id: rs1828866620
• gnomAD v3: 9-72821149-CA-C
• gnomAD v4: 9-72821149-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72821150del , CM000671.2:g.72821150del	GRCh38
NC_000009.11:g.75436066del , CM000671.1:g.75436066del	GRCh37
NC_000009.10:g.74625886del	NCBI36
NG_008213.1:g.304350del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.2003+69del MANE Select	ENSP00000297784.6:n.2003+69del
ENST00000644967.1:c.*443+69del	ENSP00000496159.1:n.*443+69del
ENST00000645053.1:c.1258-5719del	ENSP00000493838.1:n.1258-5719del
ENST00000645208.2:c.2003+69del	ENSP00000494684.1:n.2003+69del
ENST00000645773.1:c.1877+69del	ENSP00000493698.1:n.1877+69del
ENST00000645787.1:n.2146+69del
ENST00000646619.1:c.1565+69del	ENSP00000493726.1:n.1565+69del
ENST00000651183.1:c.1565+69del	ENSP00000498723.1:n.1565+69del
ENST00000297784.9:c.2003+69del	ENSP00000297784.5:n.2003+69del
ENST00000340019.4:c.2003+69del	ENSP00000341433.3:n.2003+69del
ENST00000469455.1:n.484+69del
ENST00000486417.5:n.901+69del
NM_138691.2:c.2003+69del	NP_619636.2:n.2003+69del
XM_011518213.1:c.2591+69del	XP_011516515.1:n.2591+69del
XM_017014256.1:c.2006+69del	XP_016869745.1:n.2006+69del
NM_138691.3:c.2003+69del MANE Select	NP_619636.2:n.2003+69del