Canonical Allele Identifier: CA2580071163
Community Standard Title: NM_018475.5(TMEM165):c.17_18delinsGG (p.Pro6Arg)
Gene: TMEM165 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.55396206_55396207delinsGG , CM000666.2:g.55396206_55396207delinsGG GRCh38
NC_000004.11:g.56262373_56262374delinsGG , CM000666.1:g.56262373_56262374delinsGG GRCh37
NC_000004.10:g.55957130_55957131delinsGG NCBI36
NG_032881.1:g.5294_5295delinsGG

Transcript Alleles

HGVS Amino-acid Change
NM_018475.5:c.17_18delinsGG MANE Select NP_060945.2:p.Pro6Arg
ENST00000381334.10:c.17_18delinsGG MANE Select ENSP00000370736.5:p.Pro6Arg
NM_018475.4:c.17_18delinsGG NP_060945.2:p.Pro6Arg
NR_073070.1:n.294_295delinsGG
NR_073070.2:n.250_251delinsGG
ENST00000381334.9:c.17_18delinsGG ENSP00000370736.5:p.Pro6Arg
ENST00000506198.5:c.17_18delinsGG ENSP00000425449.1:p.Pro6Arg
ENST00000508404.5:c.17_18delinsGG ENSP00000422639.1:p.Pro6Arg
XM_011534394.1:c.17_18delinsGG XP_011532696.1:p.Pro6Arg
XM_011534394.3:c.17_18delinsGG XP_011532696.1:p.Pro6Arg
XR_001741287.2:n.554_555delinsGG