Canonical Allele Identifier: CA2759976082

Gene: TMEM44

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.194604421del , CM000665.2:g.194604421del	GRCh38
NC_000003.11:g.194325150del , CM000665.1:g.194325150del	GRCh37
NC_000003.10:g.195806439del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347147.9:c.1043del MANE Select	ENSP00000333355.6:p.Pro348GlnfsTer?
ENST00000347147.8:c.1043del	ENSP00000333355.6:p.Pro348GlnfsTer?
ENST00000381975.7:c.1039del	ENSP00000371402.3:p.Gln347ArgfsTer2
ENST00000392432.6:c.1184del	ENSP00000376227.2:p.Pro395GlnfsTer?
ENST00000419280.5:c.*339del	ENSP00000414077.1:n.*339del
ENST00000429560.1:c.235del	ENSP00000403053.1:p.Gln79ArgfsTer2
ENST00000432352.5:c.317del	ENSP00000409963.1:p.Pro106GlnfsTer?
ENST00000452358.5:c.542del	ENSP00000414333.1:p.Pro181GlnfsTer?
ENST00000467284.1:n.89del
ENST00000473092.5:c.1043del	ENSP00000418674.1:p.Pro348GlnfsTer?
ENST00000477651.5:n.807del
NM_001011655.2:c.1043del	NP_001011655.1:p.Pro348GlnfsTer?
NM_001166305.1:c.1184del	NP_001159777.1:p.Pro395GlnfsTer?
NM_001166306.1:c.1039del	NP_001159778.1:p.Gln347ArgfsTer2
NM_138399.4:c.1043del	NP_612408.3:p.Pro348GlnfsTer?
XM_005269371.3:c.1043del	XP_005269428.1:p.Pro348GlnfsTer?
XM_011513318.1:c.1193del	XP_011511620.1:p.Pro398GlnfsTer?
XM_011513319.1:c.1130del	XP_011511621.1:p.Pro377GlnfsTer?
XM_011513320.1:c.1241del	XP_011511622.1:p.Pro414GlnfsTer?
XM_011513321.1:c.1109del	XP_011511623.1:p.Pro370GlnfsTer?
XM_011513322.1:c.1100del	XP_011511624.1:p.Pro367GlnfsTer?
XM_011513323.1:c.938del	XP_011511625.1:p.Pro313GlnfsTer?
XM_005269371.4:c.1043del	XP_005269428.1:p.Pro348GlnfsTer?
XM_011513318.2:c.1193del	XP_011511620.1:p.Pro398GlnfsTer?
XM_011513319.2:c.1130del	XP_011511621.1:p.Pro377GlnfsTer?
XM_011513320.2:c.1241del	XP_011511622.1:p.Pro414GlnfsTer?
XM_011513321.2:c.1109del	XP_011511623.1:p.Pro370GlnfsTer?
XM_011513322.2:c.1100del	XP_011511624.1:p.Pro367GlnfsTer?
XM_017007517.1:c.1052del	XP_016863006.1:p.Pro351GlnfsTer?
XM_017007518.1:c.1052del	XP_016863007.1:p.Pro351GlnfsTer?
NM_001011655.3:c.1043del MANE Select	NP_001011655.1:p.Pro348GlnfsTer?
NM_001166305.2:c.1184del	NP_001159777.1:p.Pro395GlnfsTer?
NM_001166306.2:c.1039del	NP_001159778.1:p.Gln347ArgfsTer2
NM_138399.5:c.1043del	NP_612408.3:p.Pro348GlnfsTer?