Canonical Allele Identifier: CA2551137615
Gene: TMEM44 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.194604363_194604364insCCTCCGCCGCGACGGCGACCGCGATACCCTCACGCTTCACTTCCCCAAGACTCATGAGGGCAACCTCCGTGGCTGTCGCGTCATCGTTCGCGGCGTGACCTACCGCGTGATAGGCGATCCGCAAC , CM000665.2:g.194604363_194604364insCCTCCGCCGCGACGGCGACCGCGATACCCTCACGCTTCACTTCCCCAAGACTCATGAGGGCAACCTCCGTGGCTGTCGCGTCATCGTTCGCGGCGTGACCTACCGCGTGATAGGCGATCCGCAAC GRCh38
NC_000003.11:g.194325092_194325093insCCTCCGCCGCGACGGCGACCGCGATACCCTCACGCTTCACTTCCCCAAGACTCATGAGGGCAACCTCCGTGGCTGTCGCGTCATCGTTCGCGGCGTGACCTACCGCGTGATAGGCGATCCGCAAC , CM000665.1:g.194325092_194325093insCCTCCGCCGCGACGGCGACCGCGATACCCTCACGCTTCACTTCCCCAAGACTCATGAGGGCAACCTCCGTGGCTGTCGCGTCATCGTTCGCGGCGTGACCTACCGCGTGATAGGCGATCCGCAAC GRCh37
NC_000003.10:g.195806381_195806382insCCTCCGCCGCGACGGCGACCGCGATACCCTCACGCTTCACTTCCCCAAGACTCATGAGGGCAACCTCCGTGGCTGTCGCGTCATCGTTCGCGGCGTGACCTACCGCGTGATAGGCGATCCGCAAC NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000347147.9:c.1099_1100insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG MANE Select ENSP00000333355.6:p.Pro367ArgfsTer9
ENST00000347147.8:c.1099_1100insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG ENSP00000333355.6:p.Pro367ArgfsTer9
ENST00000381975.7:c.1095_1096insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG ENSP00000371402.3:p.Leu366ValfsTer15
ENST00000392432.6:c.1240_1241insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG ENSP00000376227.2:p.Pro414ArgfsTer9
ENST00000419280.5:c.*395_*396insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG ENSP00000414077.1:n.*395_*396insGTTGCGGATCGCCTATCACGCGGTAGGTC...
ENST00000429560.1:c.291_292insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG ENSP00000403053.1:p.Leu98ValfsTer15
ENST00000432352.5:c.373_374insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG ENSP00000409963.1:p.Pro125ArgfsTer9
ENST00000452358.5:c.598_599insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG ENSP00000414333.1:p.Pro200ArgfsTer9
ENST00000467284.1:n.145_146insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG
ENST00000473092.5:c.1099_1100insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG ENSP00000418674.1:p.Pro367ArgfsTer9
ENST00000477651.5:n.863_864insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG
NM_001011655.2:c.1099_1100insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG NP_001011655.1:p.Pro367ArgfsTer9
NM_001166305.1:c.1240_1241insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG NP_001159777.1:p.Pro414ArgfsTer9
NM_001166306.1:c.1095_1096insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG NP_001159778.1:p.Leu366ValfsTer15
NM_138399.4:c.1099_1100insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG NP_612408.3:p.Pro367ArgfsTer9
XM_005269371.3:c.1099_1100insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG XP_005269428.1:p.Pro367ArgfsTer9
XM_011513318.1:c.1249_1250insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG XP_011511620.1:p.Pro417ArgfsTer9
XM_011513319.1:c.1186_1187insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG XP_011511621.1:p.Pro396ArgfsTer9
XM_011513320.1:c.1297_1298insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG XP_011511622.1:p.Pro433ArgfsTer9
XM_011513321.1:c.1165_1166insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG XP_011511623.1:p.Pro389ArgfsTer9
XM_011513322.1:c.1156_1157insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG XP_011511624.1:p.Pro386ArgfsTer9
XM_011513323.1:c.994_995insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG XP_011511625.1:p.Pro332ArgfsTer9
XM_005269371.4:c.1099_1100insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG XP_005269428.1:p.Pro367ArgfsTer9
XM_011513318.2:c.1249_1250insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG XP_011511620.1:p.Pro417ArgfsTer9
XM_011513319.2:c.1186_1187insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG XP_011511621.1:p.Pro396ArgfsTer9
XM_011513320.2:c.1297_1298insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG XP_011511622.1:p.Pro433ArgfsTer9
XM_011513321.2:c.1165_1166insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG XP_011511623.1:p.Pro389ArgfsTer9
XM_011513322.2:c.1156_1157insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG XP_011511624.1:p.Pro386ArgfsTer9
XM_017007517.1:c.1108_1109insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG XP_016863006.1:p.Pro370ArgfsTer9
XM_017007518.1:c.1108_1109insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG XP_016863007.1:p.Pro370ArgfsTer9
NM_001011655.3:c.1099_1100insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG MANE Select NP_001011655.1:p.Pro367ArgfsTer9
NM_001166305.2:c.1240_1241insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG NP_001159777.1:p.Pro414ArgfsTer9
NM_001166306.2:c.1095_1096insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG NP_001159778.1:p.Leu366ValfsTer15
NM_138399.5:c.1099_1100insGTTGCGGATCGCCTATCACGCGGTAGGTCACGCCGCGAACGATGACGCGACAGCCACGGAGGTTGCCCTCATGAGTCTTGGGGAAGTGAAGCGTGAGGGTATCGCGGTCGCCGTCGCGGCGGAGG NP_612408.3:p.Pro367ArgfsTer9