Canonical Allele Identifier: CA1855065557

Gene: TMC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72694753_72694756delinsTGAA , CM000671.2:g.72694753_72694756delinsTGAA	GRCh38
NC_000009.11:g.75309669_75309672delinsTGAA , CM000671.1:g.75309669_75309672delinsTGAA	GRCh37
NC_000009.10:g.74499489_74499492delinsTGAA	NCBI36
NG_008213.1:g.177953_177956delinsTGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.236+39_236+42delinsTGAA MANE Select	ENSP00000297784.6:n.236+39_236+42delinsTGAA
ENST00000644967.1:c.-77+39_-77+42delinsTGAA	ENSP00000496159.1:n.-77+39_-77+42delinsTGAA
ENST00000645053.1:c.-77+39_-77+42delinsTGAA	ENSP00000493838.1:n.-77+39_-77+42delinsTGAA
ENST00000645208.2:c.236+39_236+42delinsTGAA	ENSP00000494684.1:n.236+39_236+42delinsTGAA
ENST00000645773.1:c.236+39_236+42delinsTGAA	ENSP00000493698.1:n.236+39_236+42delinsTGAA
ENST00000645787.1:n.276+39_276+42delinsTGAA
ENST00000646244.1:n.686+39_686+42delinsTGAA
ENST00000646619.1:c.-77+39_-77+42delinsTGAA	ENSP00000493726.1:n.-77+39_-77+42delinsTGAA
ENST00000650689.1:n.660+39_660+42delinsTGAA
ENST00000651183.1:c.-77+39_-77+42delinsTGAA	ENSP00000498723.1:n.-77+39_-77+42delinsTGAA
ENST00000297784.9:c.236+39_236+42delinsTGAA	ENSP00000297784.5:n.236+39_236+42delinsTGAA
ENST00000340019.4:c.236+39_236+42delinsTGAA	ENSP00000341433.3:n.236+39_236+42delinsTGAA
NM_138691.2:c.236+39_236+42delinsTGAA	NP_619636.2:n.236+39_236+42delinsTGAA
XM_011518213.1:c.824+39_824+42delinsTGAA	XP_011516515.1:n.824+39_824+42delinsTGAA
XM_017014256.1:c.239+39_239+42delinsTGAA	XP_016869745.1:n.239+39_239+42delinsTGAA
NM_138691.3:c.236+39_236+42delinsTGAA MANE Select	NP_619636.2:n.236+39_236+42delinsTGAA