Canonical Allele Identifier: CA2669137842

Gene: TMEM44

Linked Data

• gnomAD v4: 3-194604409-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.194604412dup , CM000665.2:g.194604412dup	GRCh38
NC_000003.11:g.194325141dup , CM000665.1:g.194325141dup	GRCh37
NC_000003.10:g.195806430dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347147.9:c.1053dup MANE Select	ENSP00000333355.6:p.Gln352AlafsTer?
ENST00000347147.8:c.1053dup	ENSP00000333355.6:p.Gln352AlafsTer?
ENST00000381975.7:c.1049dup	ENSP00000371402.3:p.Arg351GlnfsTer?
ENST00000392432.6:c.1194dup	ENSP00000376227.2:p.Gln399AlafsTer?
ENST00000419280.5:c.*349dup	ENSP00000414077.1:n.*349dup
ENST00000429560.1:c.245dup	ENSP00000403053.1:p.Arg83GlnfsTer?
ENST00000432352.5:c.327dup	ENSP00000409963.1:p.Gln110AlafsTer?
ENST00000452358.5:c.552dup	ENSP00000414333.1:p.Gln185AlafsTer?
ENST00000467284.1:n.99dup
ENST00000473092.5:c.1053dup	ENSP00000418674.1:p.Gln352AlafsTer?
ENST00000477651.5:n.817dup
NM_001011655.2:c.1053dup	NP_001011655.1:p.Gln352AlafsTer?
NM_001166305.1:c.1194dup	NP_001159777.1:p.Gln399AlafsTer?
NM_001166306.1:c.1049dup	NP_001159778.1:p.Arg351GlnfsTer?
NM_138399.4:c.1053dup	NP_612408.3:p.Gln352AlafsTer?
XM_005269371.3:c.1053dup	XP_005269428.1:p.Gln352AlafsTer?
XM_011513318.1:c.1203dup	XP_011511620.1:p.Gln402AlafsTer?
XM_011513319.1:c.1140dup	XP_011511621.1:p.Gln381AlafsTer?
XM_011513320.1:c.1251dup	XP_011511622.1:p.Gln418AlafsTer?
XM_011513321.1:c.1119dup	XP_011511623.1:p.Gln374AlafsTer?
XM_011513322.1:c.1110dup	XP_011511624.1:p.Gln371AlafsTer?
XM_011513323.1:c.948dup	XP_011511625.1:p.Gln317AlafsTer?
XM_005269371.4:c.1053dup	XP_005269428.1:p.Gln352AlafsTer?
XM_011513318.2:c.1203dup	XP_011511620.1:p.Gln402AlafsTer?
XM_011513319.2:c.1140dup	XP_011511621.1:p.Gln381AlafsTer?
XM_011513320.2:c.1251dup	XP_011511622.1:p.Gln418AlafsTer?
XM_011513321.2:c.1119dup	XP_011511623.1:p.Gln374AlafsTer?
XM_011513322.2:c.1110dup	XP_011511624.1:p.Gln371AlafsTer?
XM_017007517.1:c.1062dup	XP_016863006.1:p.Gln355AlafsTer?
XM_017007518.1:c.1062dup	XP_016863007.1:p.Gln355AlafsTer?
NM_001011655.3:c.1053dup MANE Select	NP_001011655.1:p.Gln352AlafsTer?
NM_001166305.2:c.1194dup	NP_001159777.1:p.Gln399AlafsTer?
NM_001166306.2:c.1049dup	NP_001159778.1:p.Arg351GlnfsTer?
NM_138399.5:c.1053dup	NP_612408.3:p.Gln352AlafsTer?