Canonical Allele Identifier: CA658656514
Gene: TMEM231 HGNC NCBI

Linked Data

ClinVar Variation Id: 473321

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.75540017_75540018delinsCT , CM000678.2:g.75540017_75540018delinsCT GRCh38
NC_000016.9:g.75573915_75573916delinsCT , CM000678.1:g.75573915_75573916delinsCT GRCh37
NC_000016.8:g.74131416_74131417delinsCT NCBI36
NG_029853.1:g.153_154delinsAG
NG_033109.1:g.21269_21270delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000685935.1:c.*561_*562delinsAG ENSP00000510128.1:n.*561_*562delinsAG
ENST00000686680.1:c.612_613delinsAG ENSP00000508892.1:p.Asp204_Leu205delinsGluVal
ENST00000688195.1:c.555_556delinsAG ENSP00000510115.1:p.Asp185_Leu186delinsGluVal
ENST00000688270.1:c.*248_*249delinsAG ENSP00000509823.1:n.*248_*249delinsAG
ENST00000688618.1:c.*754_*755delinsAG ENSP00000509271.1:n.*754_*755delinsAG
ENST00000689040.1:c.*1034_*1035delinsAG ENSP00000508573.1:n.*1034_*1035delinsAG
ENST00000692097.1:c.*678_*679delinsAG ENSP00000509668.1:n.*678_*679delinsAG
ENST00000692689.1:c.579_580delinsAG ENSP00000509732.1:p.Asp193_Leu194delinsGluVal
ENST00000693457.1:c.*1152_*1153delinsAG ENSP00000508414.1:n.*1152_*1153delinsAG
ENST00000693682.1:c.*571_*572delinsAG ENSP00000508670.1:n.*571_*572delinsAG
ENST00000258173.11:c.927_928delinsAG MANE Select ENSP00000258173.5:p.Asp309_Leu310delinsGluVal
ENST00000258173.10:c.927_928delinsAG ENSP00000258173.5:p.Asp309_Leu310delinsGluVal
ENST00000460606.1:c.159+2584_159+2585delinsAG
ENST00000562410.5:c.*729_*730delinsAG ENSP00000454582.1:n.*729_*730delinsAG
ENST00000564318.1:n.852_853delinsAG
ENST00000565067.5:c.783_784delinsAG ENSP00000457254.1:p.Asp261_Leu262delinsGluVal
ENST00000568377.5:c.1014_1015delinsAG ENSP00000476267.1:p.Asp338_Leu339delinsGluVal
ENST00000570006.5:c.*307_*308delinsAG ENSP00000455520.1:n.*307_*308delinsAG
NM_001077416.2:c.1086_1087delinsAG NP_001070884.2:p.Asp362_Leu363delinsGluVal
NM_001077418.2:c.927_928delinsAG NP_001070886.1:p.Asp309_Leu310delinsGluVal
NR_074083.1:n.1127_1128delinsAG
NM_001077418.3:c.927_928delinsAG MANE Select NP_001070886.1:p.Asp309_Leu310delinsGluVal
NR_074083.2:n.1093_1094delinsAG