Canonical Allele Identifier: CA645601557
Community Standard Title: NM_003611.3(OFD1):c.2371_2372delinsTT (p.Pro791Leu)
Gene: OFD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.13761195_13761196delinsTT , CM000685.2:g.13761195_13761196delinsTT GRCh38
NC_000023.10:g.13779314_13779315delinsTT , CM000685.1:g.13779314_13779315delinsTT GRCh37
NC_000023.9:g.13689235_13689236delinsTT NCBI36
NG_008872.1:g.31483_31484delinsTT

Transcript Alleles

HGVS Amino-acid Change
NM_003611.3:c.2371_2372delinsTT MANE Select NP_003602.1:p.Pro791Leu
ENST00000340096.11:c.2371_2372delinsTT MANE Select ENSP00000344314.6:p.Pro791Leu
NM_001330209.1:c.2251_2252delinsTT NP_001317138.1:p.Pro751Leu
NM_001330209.2:c.2251_2252delinsTT NP_001317138.1:p.Pro751Leu
NM_001330210.1:c.1951_1952delinsTT NP_001317139.1:p.Pro651Leu
NM_001330210.2:c.1951_1952delinsTT NP_001317139.1:p.Pro651Leu
NM_003611.2:c.2371_2372delinsTT NP_003602.1:p.Pro791Leu
ENST00000340096.10:c.2371_2372delinsTT ENSP00000344314.6:p.Pro791Leu
ENST00000380550.6:c.2251_2252delinsTT ENSP00000369923.3:p.Pro751Leu
ENST00000380567.5:c.1951_1952delinsTT ENSP00000369941.1:p.Pro651Leu
ENST00000380567.6:c.*2064_*2065delinsTT ENSP00000369941.2:n.*2064_*2065delinsTT
ENST00000398395.7:c.*711_*712delinsTT ENSP00000381432.4:n.*711_*712delinsTT
ENST00000398395.8:c.*1832_*1833delinsTT ENSP00000381432.5:n.*1832_*1833delinsTT
ENST00000464463.5:n.192_193delinsTT
ENST00000464463.6:n.4200_4201delinsTT
ENST00000490265.5:n.3346_3347delinsTT
ENST00000490265.6:n.2900_2901delinsTT
ENST00000682237.1:c.*1931_*1932delinsTT ENSP00000507121.1:n.*1931_*1932delinsTT
ENST00000682562.1:c.*3773_*3774delinsTT ENSP00000507874.1:n.*3773_*3774delinsTT
ENST00000682953.1:c.*3098_*3099delinsTT ENSP00000507878.1:n.*3098_*3099delinsTT
ENST00000683055.1:c.*3352_*3353delinsTT ENSP00000508191.1:n.*3352_*3353delinsTT
ENST00000683284.1:c.*2602_*2603delinsTT ENSP00000507837.1:n.*2602_*2603delinsTT
ENST00000683427.1:c.*1028_*1029delinsTT ENSP00000507290.1:n.*1028_*1029delinsTT
ENST00000683454.1:n.2385_2386delinsTT
ENST00000683637.1:n.3480_3481delinsTT
ENST00000683655.1:c.*2585_*2586delinsTT ENSP00000506770.1:n.*2585_*2586delinsTT
ENST00000683713.1:c.*2602_*2603delinsTT ENSP00000507797.1:n.*2602_*2603delinsTT
ENST00000684577.1:c.*2068_*2069delinsTT ENSP00000507871.1:n.*2068_*2069delinsTT
XM_005274599.2:c.2392_2393delinsTT XP_005274656.1:p.Pro798Leu
XM_005274602.2:c.2392_2393delinsTT XP_005274659.1:p.Pro798Leu
XM_005274603.2:c.2272_2273delinsTT XP_005274660.1:p.Pro758Leu
XM_005274604.2:c.2251_2252delinsTT XP_005274661.1:p.Pro751Leu
XM_005274606.2:c.2227_2228delinsTT XP_005274663.1:p.Pro743Leu
XM_005274606.4:c.2227_2228delinsTT XP_005274663.1:p.Pro743Leu
XM_005274607.3:c.1951_1952delinsTT XP_005274664.1:p.Pro651Leu
XM_011545591.1:c.2392_2393delinsTT XP_011543893.1:p.Pro798Leu
XM_011545592.1:c.2179_2180delinsTT XP_011543894.1:p.Pro727Leu
XM_011545592.3:c.2179_2180delinsTT XP_011543894.1:p.Pro727Leu
XM_011545593.1:c.2392_2393delinsTT XP_011543895.1:p.Pro798Leu
XM_011545594.1:c.2050_2051delinsTT XP_011543896.1:p.Pro684Leu
XM_011545594.3:c.2050_2051delinsTT XP_011543896.1:p.Pro684Leu
XM_011545595.1:c.2050_2051delinsTT XP_011543897.1:p.Pro684Leu
XM_011545596.1:c.2392_2393delinsTT XP_011543898.1:p.Pro798Leu
XM_011545597.1:c.1951_1952delinsTT XP_011543899.1:p.Pro651Leu
XM_011545597.2:c.1951_1952delinsTT XP_011543899.1:p.Pro651Leu
XM_011545598.1:c.1096_1097delinsTT XP_011543900.1:p.Pro366Leu
XM_017029909.1:c.1951_1952delinsTT XP_016885398.1:p.Pro651Leu
XM_017029911.1:c.1429_1430delinsTT XP_016885400.1:p.Pro477Leu
XM_024452468.1:c.1096_1097delinsTT XP_024308236.1:p.Pro366Leu
XM_024452469.1:c.1096_1097delinsTT XP_024308237.1:p.Pro366Leu
XM_024452470.1:c.1096_1097delinsTT XP_024308238.1:p.Pro366Leu
XM_024452471.1:c.1096_1097delinsTT XP_024308239.1:p.Pro366Leu
XR_247288.2:n.2731_2732delinsTT