Canonical Allele Identifier: CA1855118656
Gene: TMC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.72816139_72816140delinsCT , CM000671.2:g.72816139_72816140delinsCT GRCh38
NC_000009.11:g.75431055_75431056delinsCT , CM000671.1:g.75431055_75431056delinsCT GRCh37
NC_000009.10:g.74620875_74620876delinsCT NCBI36
NG_008213.1:g.299339_299340delinsCT

Transcript Alleles

HGVS Amino-acid change
ENST00000297784.10:c.1696-4_1696-3delinsCT MANE Select ENSP00000297784.6:n.1696-4_1696-3delinsCT
ENST00000644967.1:c.1258-4_1258-3delinsCT ENSP00000496159.1:n.1258-4_1258-3delinsCT
ENST00000645053.1:c.1257+10629_1257+10630delinsCT ENSP00000493838.1:n.1257+10629_1257+10630delinsCT
ENST00000645208.2:c.1696-4_1696-3delinsCT ENSP00000494684.1:n.1696-4_1696-3delinsCT
ENST00000645773.1:c.1570-4_1570-3delinsCT ENSP00000493698.1:n.1570-4_1570-3delinsCT
ENST00000645787.1:n.1839-4_1839-3delinsCT
ENST00000646619.1:c.1258-4_1258-3delinsCT ENSP00000493726.1:n.1258-4_1258-3delinsCT
ENST00000651183.1:c.1258-4_1258-3delinsCT ENSP00000498723.1:n.1258-4_1258-3delinsCT
ENST00000297784.9:c.1696-4_1696-3delinsCT ENSP00000297784.5:n.1696-4_1696-3delinsCT
ENST00000340019.4:c.1696-4_1696-3delinsCT ENSP00000341433.3:n.1696-4_1696-3delinsCT
ENST00000469455.1:n.177-4_177-3delinsCT
ENST00000486417.5:n.320-4_320-3delinsCT
NM_138691.2:c.1696-4_1696-3delinsCT NP_619636.2:n.1696-4_1696-3delinsCT
XM_011518213.1:c.2284-4_2284-3delinsCT XP_011516515.1:n.2284-4_2284-3delinsCT
XM_017014256.1:c.1699-4_1699-3delinsCT XP_016869745.1:n.1699-4_1699-3delinsCT
NM_138691.3:c.1696-4_1696-3delinsCT MANE Select NP_619636.2:n.1696-4_1696-3delinsCT