Canonical Allele Identifier: CA2830546289

Gene: TMC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72694804_72694805insGGCTCTCTTTCTAAAAGT , CM000671.2:g.72694804_72694805insGGCTCTCTTTCTAAAAGT	GRCh38
NC_000009.11:g.75309720_75309721insGGCTCTCTTTCTAAAAGT , CM000671.1:g.75309720_75309721insGGCTCTCTTTCTAAAAGT	GRCh37
NC_000009.10:g.74499540_74499541insGGCTCTCTTTCTAAAAGT	NCBI36
NG_008213.1:g.178004_178005insGGCTCTCTTTCTAAAAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.236+90_236+91insGGCTCTCTTTCTAAAAGT MANE Select	ENSP00000297784.6:n.236+90_236+91insGGCTCTCTTTCTAAAAGT
ENST00000644967.1:c.-77+90_-77+91insGGCTCTCTTTCTAAAAGT	ENSP00000496159.1:n.-77+90_-77+91insGGCTCTCTTTCTAAAAGT
ENST00000645053.1:c.-77+90_-77+91insGGCTCTCTTTCTAAAAGT	ENSP00000493838.1:n.-77+90_-77+91insGGCTCTCTTTCTAAAAGT
ENST00000645208.2:c.236+90_236+91insGGCTCTCTTTCTAAAAGT	ENSP00000494684.1:n.236+90_236+91insGGCTCTCTTTCTAAAAGT
ENST00000645773.1:c.236+90_236+91insGGCTCTCTTTCTAAAAGT	ENSP00000493698.1:n.236+90_236+91insGGCTCTCTTTCTAAAAGT
ENST00000645787.1:n.276+90_276+91insGGCTCTCTTTCTAAAAGT
ENST00000646244.1:n.686+90_686+91insGGCTCTCTTTCTAAAAGT
ENST00000646619.1:c.-77+90_-77+91insGGCTCTCTTTCTAAAAGT	ENSP00000493726.1:n.-77+90_-77+91insGGCTCTCTTTCTAAAAGT
ENST00000650689.1:n.660+90_660+91insGGCTCTCTTTCTAAAAGT
ENST00000651183.1:c.-77+90_-77+91insGGCTCTCTTTCTAAAAGT	ENSP00000498723.1:n.-77+90_-77+91insGGCTCTCTTTCTAAAAGT
ENST00000297784.9:c.236+90_236+91insGGCTCTCTTTCTAAAAGT	ENSP00000297784.5:n.236+90_236+91insGGCTCTCTTTCTAAAAGT
ENST00000340019.4:c.236+90_236+91insGGCTCTCTTTCTAAAAGT	ENSP00000341433.3:n.236+90_236+91insGGCTCTCTTTCTAAAAGT
NM_138691.2:c.236+90_236+91insGGCTCTCTTTCTAAAAGT	NP_619636.2:n.236+90_236+91insGGCTCTCTTTCTAAAAGT
XM_011518213.1:c.824+90_824+91insGGCTCTCTTTCTAAAAGT	XP_011516515.1:n.824+90_824+91insGGCTCTCTTTCTAAAAGT
XM_017014256.1:c.239+90_239+91insGGCTCTCTTTCTAAAAGT	XP_016869745.1:n.239+90_239+91insGGCTCTCTTTCTAAAAGT
NM_138691.3:c.236+90_236+91insGGCTCTCTTTCTAAAAGT MANE Select	NP_619636.2:n.236+90_236+91insGGCTCTCTTTCTAAAAGT