Canonical Allele Identifier: CA2690286430

Gene: TMC1

Linked Data

• gnomAD v4: 9-72700715-T-TAA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72700716_72700717insAA , CM000671.2:g.72700716_72700717insAA	GRCh38
NC_000009.11:g.75315632_75315633insAA , CM000671.1:g.75315632_75315633insAA	GRCh37
NC_000009.10:g.74505452_74505453insAA	NCBI36
NG_008213.1:g.183916_183917insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.362+73_362+74insAA MANE Select	ENSP00000297784.6:n.362+73_362+74insAA
ENST00000644967.1:c.-77+6002_-77+6003insAA	ENSP00000496159.1:n.-77+6002_-77+6003insAA
ENST00000645053.1:c.-77+6002_-77+6003insAA	ENSP00000493838.1:n.-77+6002_-77+6003insAA
ENST00000645208.2:c.362+73_362+74insAA	ENSP00000494684.1:n.362+73_362+74insAA
ENST00000645773.1:c.236+6002_236+6003insAA	ENSP00000493698.1:n.236+6002_236+6003insAA
ENST00000645787.1:n.402+73_402+74insAA
ENST00000646244.1:n.885_886insAA
ENST00000646619.1:c.-77+6002_-77+6003insAA	ENSP00000493726.1:n.-77+6002_-77+6003insAA
ENST00000650689.1:n.660+6002_660+6003insAA
ENST00000651183.1:c.-77+6002_-77+6003insAA	ENSP00000498723.1:n.-77+6002_-77+6003insAA
ENST00000297784.9:c.362+73_362+74insAA	ENSP00000297784.5:n.362+73_362+74insAA
ENST00000340019.4:c.362+73_362+74insAA	ENSP00000341433.3:n.362+73_362+74insAA
NM_138691.2:c.362+73_362+74insAA	NP_619636.2:n.362+73_362+74insAA
XM_011518213.1:c.950+73_950+74insAA	XP_011516515.1:n.950+73_950+74insAA
XM_017014256.1:c.365+73_365+74insAA	XP_016869745.1:n.365+73_365+74insAA
NM_138691.3:c.362+73_362+74insAA MANE Select	NP_619636.2:n.362+73_362+74insAA