Canonical Allele Identifier: CA2830546291

Gene: TMC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72694810_72694811insCAA , CM000671.2:g.72694810_72694811insCAA	GRCh38
NC_000009.11:g.75309726_75309727insCAA , CM000671.1:g.75309726_75309727insCAA	GRCh37
NC_000009.10:g.74499546_74499547insCAA	NCBI36
NG_008213.1:g.178010_178011insCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.236+96_236+97insCAA MANE Select	ENSP00000297784.6:n.236+96_236+97insCAA
ENST00000644967.1:c.-77+96_-77+97insCAA	ENSP00000496159.1:n.-77+96_-77+97insCAA
ENST00000645053.1:c.-77+96_-77+97insCAA	ENSP00000493838.1:n.-77+96_-77+97insCAA
ENST00000645208.2:c.236+96_236+97insCAA	ENSP00000494684.1:n.236+96_236+97insCAA
ENST00000645773.1:c.236+96_236+97insCAA	ENSP00000493698.1:n.236+96_236+97insCAA
ENST00000645787.1:n.276+96_276+97insCAA
ENST00000646244.1:n.686+96_686+97insCAA
ENST00000646619.1:c.-77+96_-77+97insCAA	ENSP00000493726.1:n.-77+96_-77+97insCAA
ENST00000650689.1:n.660+96_660+97insCAA
ENST00000651183.1:c.-77+96_-77+97insCAA	ENSP00000498723.1:n.-77+96_-77+97insCAA
ENST00000297784.9:c.236+96_236+97insCAA	ENSP00000297784.5:n.236+96_236+97insCAA
ENST00000340019.4:c.236+96_236+97insCAA	ENSP00000341433.3:n.236+96_236+97insCAA
NM_138691.2:c.236+96_236+97insCAA	NP_619636.2:n.236+96_236+97insCAA
XM_011518213.1:c.824+96_824+97insCAA	XP_011516515.1:n.824+96_824+97insCAA
XM_017014256.1:c.239+96_239+97insCAA	XP_016869745.1:n.239+96_239+97insCAA
NM_138691.3:c.236+96_236+97insCAA MANE Select	NP_619636.2:n.236+96_236+97insCAA