Canonical Allele Identifier: CA1430709427

Gene: TMEM44

Linked Data

• dbSNP Id: rs1714547535
• gnomAD v4: 3-194604440-G-GCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.194604441_194604443dup , CM000665.2:g.194604441_194604443dup	GRCh38
NC_000003.11:g.194325170_194325172dup , CM000665.1:g.194325170_194325172dup	GRCh37
NC_000003.10:g.195806459_195806461dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347147.9:c.1020_1022dup MANE Select	ENSP00000333355.6:p.Gly341_Cys342insGly
ENST00000347147.8:c.1020_1022dup	ENSP00000333355.6:p.Gly341_Cys342insGly
ENST00000381975.7:c.1018-2_1018dup
ENST00000392432.6:c.1161_1163dup	ENSP00000376227.2:p.Gly388_Cys389insGly
ENST00000419280.5:c.*316_*318dup	ENSP00000414077.1:n.*316_*318dup
ENST00000429560.1:c.214-2_214dup
ENST00000432352.5:c.294_296dup	ENSP00000409963.1:p.Gly99_Cys100insGly
ENST00000452358.5:c.519_521dup	ENSP00000414333.1:p.Gly174_Cys175insGly
ENST00000467284.1:n.66_68dup
ENST00000473092.5:c.1020_1022dup	ENSP00000418674.1:p.Gly341_Cys342insGly
ENST00000477651.5:n.784_786dup
NM_001011655.2:c.1020_1022dup	NP_001011655.1:p.Gly341_Cys342insGly
NM_001166305.1:c.1161_1163dup	NP_001159777.1:p.Gly388_Cys389insGly
NM_001166306.1:c.1018-2_1018dup
NM_138399.4:c.1020_1022dup	NP_612408.3:p.Gly341_Cys342insGly
XM_005269371.3:c.1020_1022dup	XP_005269428.1:p.Gly341_Cys342insGly
XM_011513318.1:c.1170_1172dup	XP_011511620.1:p.Gly391_Cys392insGly
XM_011513319.1:c.1107_1109dup	XP_011511621.1:p.Gly370_Cys371insGly
XM_011513320.1:c.1218_1220dup	XP_011511622.1:p.Gly407_Cys408insGly
XM_011513321.1:c.1086_1088dup	XP_011511623.1:p.Gly363_Cys364insGly
XM_011513322.1:c.1077_1079dup	XP_011511624.1:p.Gly360_Cys361insGly
XM_011513323.1:c.915_917dup	XP_011511625.1:p.Gly306_Cys307insGly
XM_005269371.4:c.1020_1022dup	XP_005269428.1:p.Gly341_Cys342insGly
XM_011513318.2:c.1170_1172dup	XP_011511620.1:p.Gly391_Cys392insGly
XM_011513319.2:c.1107_1109dup	XP_011511621.1:p.Gly370_Cys371insGly
XM_011513320.2:c.1218_1220dup	XP_011511622.1:p.Gly407_Cys408insGly
XM_011513321.2:c.1086_1088dup	XP_011511623.1:p.Gly363_Cys364insGly
XM_011513322.2:c.1077_1079dup	XP_011511624.1:p.Gly360_Cys361insGly
XM_017007517.1:c.1029_1031dup	XP_016863006.1:p.Gly344_Cys345insGly
XM_017007518.1:c.1029_1031dup	XP_016863007.1:p.Gly344_Cys345insGly
NM_001011655.3:c.1020_1022dup MANE Select	NP_001011655.1:p.Gly341_Cys342insGly
NM_001166305.2:c.1161_1163dup	NP_001159777.1:p.Gly388_Cys389insGly
NM_001166306.2:c.1018-2_1018dup
NM_138399.5:c.1020_1022dup	NP_612408.3:p.Gly341_Cys342insGly