Canonical Allele Identifier: CA2580095355
Community Standard Title: NM_000918.4(P4HB):c.1199_1200delinsTT (p.Cys400Phe)
Gene: P4HB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.81845720_81845721delinsAA , CM000679.2:g.81845720_81845721delinsAA GRCh38
NC_000017.10:g.79803596_79803597delinsAA , CM000679.1:g.79803596_79803597delinsAA GRCh37
NC_000017.9:g.77396885_77396886delinsAA NCBI36
NG_042033.1:g.19948_19949delinsTT

Transcript Alleles

HGVS Amino-acid Change
NM_000918.4:c.1199_1200delinsTT MANE Select NP_000909.2:p.Cys400Phe
ENST00000331483.9:c.1199_1200delinsTT MANE Select ENSP00000327801.4:p.Cys400Phe
NM_000918.3:c.1199_1200delinsTT NP_000909.2:p.Cys400Phe
ENST00000331483.8:c.1199_1200delinsTT ENSP00000327801.4:p.Cys400Phe
ENST00000415593.5:c.495_496delinsTT
ENST00000415593.6:c.929_930delinsTT ENSP00000388117.2:p.Cys310Phe
ENST00000439918.6:c.1067_1068delinsTT ENSP00000388374.2:p.Cys356Phe
ENST00000439918.7:c.1067_1068delinsTT ENSP00000388374.2:p.Cys356Phe
ENST00000466567.3:n.5983_5984delinsTT
ENST00000472244.6:n.1229_1230delinsTT
ENST00000473021.2:n.509_510delinsTT
ENST00000474712.1:n.350_351delinsTT
ENST00000474712.2:n.1010_1011delinsTT
ENST00000476482.1:n.386_387delinsTT
ENST00000476482.2:n.513_514delinsTT
ENST00000477607.7:n.1391_1392delinsTT
ENST00000484286.2:n.1521_1522delinsTT
ENST00000570907.6:c.1199_1200delinsTT ENSP00000461362.2:p.Cys400Phe
ENST00000571507.5:n.102_103delinsTT
ENST00000571507.6:n.507_508delinsTT
ENST00000571617.1:c.244-74_244-73delinsTT ENSP00000458300.1:n.244-74_244-73delinsTT
ENST00000571617.2:c.1073_1074delinsTT ENSP00000458300.2:p.Cys358Phe
ENST00000574914.2:c.1091_1092delinsTT ENSP00000460612.2:p.Cys364Phe
ENST00000575069.5:c.*1014_*1015delinsTT ENSP00000459211.1:n.*1014_*1015delinsTT
ENST00000575069.6:c.*1014_*1015delinsTT ENSP00000459211.1:n.*1014_*1015delinsTT
ENST00000576390.5:c.234-2121_234-2120delinsTT ENSP00000461718.1:n.234-2121_234-2120delinsTT
ENST00000576390.6:c.1078_1079delinsTT ENSP00000461718.2:p.Ala360Leu
ENST00000679366.1:c.*382_*383delinsTT ENSP00000506375.1:n.*382_*383delinsTT
ENST00000679396.1:n.1326_1327delinsTT
ENST00000679439.1:c.1199_1200delinsTT ENSP00000505377.1:p.Cys400Phe
ENST00000679455.1:c.*1010_*1011delinsTT ENSP00000505971.1:n.*1010_*1011delinsTT
ENST00000679470.1:n.1603_1604delinsTT
ENST00000679628.1:n.2629_2630delinsTT
ENST00000679688.1:c.*820_*821delinsTT ENSP00000505272.1:n.*820_*821delinsTT
ENST00000679889.1:c.*382_*383delinsTT ENSP00000506718.1:n.*382_*383delinsTT
ENST00000680076.1:n.1425_1426delinsTT
ENST00000680083.1:c.*933_*934delinsTT ENSP00000505575.1:n.*933_*934delinsTT
ENST00000680105.1:c.*657_*658delinsTT ENSP00000506284.1:n.*657_*658delinsTT
ENST00000680191.1:c.1274_1275delinsTT ENSP00000506544.1:p.Cys425Phe
ENST00000680208.1:n.1431_1432delinsTT
ENST00000680226.1:c.1252_1253delinsTT ENSP00000505635.1:p.Ala418Leu
ENST00000680259.1:c.*1700_*1701delinsTT ENSP00000504869.1:n.*1700_*1701delinsTT
ENST00000680368.1:n.2718_2719delinsTT
ENST00000680400.1:c.230_231delinsTT ENSP00000505382.1:p.Cys77Phe
ENST00000680416.1:c.*1498_*1499delinsTT ENSP00000506306.1:n.*1498_*1499delinsTT
ENST00000680547.1:n.2028_2029delinsTT
ENST00000680559.1:n.2315_2316delinsTT
ENST00000680593.1:c.1199_1200delinsTT ENSP00000505754.1:p.Cys400Phe
ENST00000680719.1:n.1385_1386delinsTT
ENST00000680732.1:c.*657_*658delinsTT ENSP00000505727.1:n.*657_*658delinsTT
ENST00000680799.1:n.1376_1377delinsTT
ENST00000680838.1:n.1890_1891delinsTT
ENST00000680846.1:c.*820_*821delinsTT ENSP00000506612.1:n.*820_*821delinsTT
ENST00000680847.1:c.*687_*688delinsTT ENSP00000506451.1:n.*687_*688delinsTT
ENST00000680884.1:c.1301_1302delinsTT ENSP00000505953.1:p.Cys434Phe
ENST00000680909.1:c.*1526_*1527delinsTT ENSP00000505545.1:n.*1526_*1527delinsTT
ENST00000680914.1:c.1139_1140delinsTT ENSP00000505149.1:p.Cys380Phe
ENST00000681020.1:c.1199_1200delinsTT ENSP00000506014.1:p.Cys400Phe
ENST00000681030.1:c.*1452_*1453delinsTT ENSP00000505707.1:n.*1452_*1453delinsTT
ENST00000681031.1:c.*988_*989delinsTT ENSP00000505466.1:n.*988_*989delinsTT
ENST00000681068.1:n.1839_1840delinsTT
ENST00000681161.1:c.992_993delinsTT ENSP00000505659.1:p.Cys331Phe
ENST00000681259.1:n.1884_1885delinsTT
ENST00000681420.1:c.1199_1200delinsTT ENSP00000505993.1:p.Cys400Phe
ENST00000681485.1:n.1432_1433delinsTT
ENST00000681515.1:c.*602_*603delinsTT ENSP00000505872.1:n.*602_*603delinsTT
ENST00000681566.1:c.*510_*511delinsTT ENSP00000506218.1:n.*510_*511delinsTT
ENST00000681571.1:n.2273_2274delinsTT
ENST00000681614.1:n.1593_1594delinsTT
ENST00000681693.1:c.1118_1119delinsTT ENSP00000505096.1:p.Cys373Phe
ENST00000681760.1:c.*1014_*1015delinsTT ENSP00000506555.1:n.*1014_*1015delinsTT
ENST00000681835.1:n.2673_2674delinsTT
ENST00000681872.1:n.1365_1366delinsTT
ENST00000681933.1:c.*1016_*1017delinsTT ENSP00000504864.1:n.*1016_*1017delinsTT
ENST00000681954.1:n.2376_2377delinsTT
XM_024450777.1:c.1327_1328delinsTT XP_024306545.1:p.Ala443Leu
XR_002958014.1:n.1263_1264delinsTT