Canonical Allele Identifier: CA2690286349

Gene: TMC1

Linked Data

• gnomAD v4: 9-72700517-G-GAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72700528_72700530dup , CM000671.2:g.72700528_72700530dup	GRCh38
NC_000009.11:g.75315444_75315446dup , CM000671.1:g.75315444_75315446dup	GRCh37
NC_000009.10:g.74505264_74505266dup	NCBI36
NG_008213.1:g.183728_183730dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.247_249dup MANE Select	ENSP00000297784.6:p.Glu83_Ile84insGlu
ENST00000644967.1:c.-77+5814_-77+5816dup	ENSP00000496159.1:n.-77+5814_-77+5816dup
ENST00000645053.1:c.-77+5814_-77+5816dup	ENSP00000493838.1:n.-77+5814_-77+5816dup
ENST00000645208.2:c.247_249dup	ENSP00000494684.1:p.Glu83_Ile84insGlu
ENST00000645773.1:c.236+5814_236+5816dup	ENSP00000493698.1:n.236+5814_236+5816dup
ENST00000645787.1:n.287_289dup
ENST00000646244.1:n.697_699dup
ENST00000646619.1:c.-77+5814_-77+5816dup	ENSP00000493726.1:n.-77+5814_-77+5816dup
ENST00000650689.1:n.660+5814_660+5816dup
ENST00000651183.1:c.-77+5814_-77+5816dup	ENSP00000498723.1:n.-77+5814_-77+5816dup
ENST00000297784.9:c.247_249dup	ENSP00000297784.5:p.Glu83_Ile84insGlu
ENST00000340019.4:c.247_249dup	ENSP00000341433.3:p.Glu83_Ile84insGlu
NM_138691.2:c.247_249dup	NP_619636.2:p.Glu83_Ile84insGlu
XM_011518213.1:c.835_837dup	XP_011516515.1:p.Glu279_Ile280insGlu
XM_017014256.1:c.250_252dup	XP_016869745.1:p.Glu84_Ile85insGlu
NM_138691.3:c.247_249dup MANE Select	NP_619636.2:p.Glu83_Ile84insGlu