Canonical Allele Identifier: CA2762542

Gene: TMEM44

Linked Data

• dbSNP Id: rs780497689
• ExAC: 3:194325115 G / GGAC
• gnomAD v2: 3-194325115-G-GGAC
• gnomAD v4: 3-194604386-G-GGAC
• MyVariant Identifiers: chr3:g.194325115_194325116insGAC (hg19) ; chr3:g.194604386_194604387insGAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.194604388_194604390dup , CM000665.2:g.194604388_194604390dup	GRCh38
NC_000003.11:g.194325117_194325119dup , CM000665.1:g.194325117_194325119dup	GRCh37
NC_000003.10:g.195806406_195806408dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347147.9:c.1074_1076dup MANE Select	ENSP00000333355.6:p.Ser359_Leu360insSer
ENST00000347147.8:c.1074_1076dup	ENSP00000333355.6:p.Ser359_Leu360insSer
ENST00000381975.7:c.1070_1072dup	ENSP00000371402.3:p.Arg357_Pro358insArg
ENST00000392432.6:c.1215_1217dup	ENSP00000376227.2:p.Ser406_Leu407insSer
ENST00000419280.5:c.*370_*372dup	ENSP00000414077.1:n.*370_*372dup
ENST00000429560.1:c.266_268dup	ENSP00000403053.1:p.Arg89_Pro90insArg
ENST00000432352.5:c.348_350dup	ENSP00000409963.1:p.Ser117_Leu118insSer
ENST00000452358.5:c.573_575dup	ENSP00000414333.1:p.Ser192_Leu193insSer
ENST00000467284.1:n.120_122dup
ENST00000473092.5:c.1074_1076dup	ENSP00000418674.1:p.Ser359_Leu360insSer
ENST00000477651.5:n.838_840dup
NM_001011655.2:c.1074_1076dup	NP_001011655.1:p.Ser359_Leu360insSer
NM_001166305.1:c.1215_1217dup	NP_001159777.1:p.Ser406_Leu407insSer
NM_001166306.1:c.1070_1072dup	NP_001159778.1:p.Arg357_Pro358insArg
NM_138399.4:c.1074_1076dup	NP_612408.3:p.Ser359_Leu360insSer
XM_005269371.3:c.1074_1076dup	XP_005269428.1:p.Ser359_Leu360insSer
XM_011513318.1:c.1224_1226dup	XP_011511620.1:p.Ser409_Leu410insSer
XM_011513319.1:c.1161_1163dup	XP_011511621.1:p.Ser388_Leu389insSer
XM_011513320.1:c.1272_1274dup	XP_011511622.1:p.Ser425_Leu426insSer
XM_011513321.1:c.1140_1142dup	XP_011511623.1:p.Ser381_Leu382insSer
XM_011513322.1:c.1131_1133dup	XP_011511624.1:p.Ser378_Leu379insSer
XM_011513323.1:c.969_971dup	XP_011511625.1:p.Ser324_Leu325insSer
XM_005269371.4:c.1074_1076dup	XP_005269428.1:p.Ser359_Leu360insSer
XM_011513318.2:c.1224_1226dup	XP_011511620.1:p.Ser409_Leu410insSer
XM_011513319.2:c.1161_1163dup	XP_011511621.1:p.Ser388_Leu389insSer
XM_011513320.2:c.1272_1274dup	XP_011511622.1:p.Ser425_Leu426insSer
XM_011513321.2:c.1140_1142dup	XP_011511623.1:p.Ser381_Leu382insSer
XM_011513322.2:c.1131_1133dup	XP_011511624.1:p.Ser378_Leu379insSer
XM_017007517.1:c.1083_1085dup	XP_016863006.1:p.Ser362_Leu363insSer
XM_017007518.1:c.1083_1085dup	XP_016863007.1:p.Ser362_Leu363insSer
NM_001011655.3:c.1074_1076dup MANE Select	NP_001011655.1:p.Ser359_Leu360insSer
NM_001166305.2:c.1215_1217dup	NP_001159777.1:p.Ser406_Leu407insSer
NM_001166306.2:c.1070_1072dup	NP_001159778.1:p.Arg357_Pro358insArg
NM_138399.5:c.1074_1076dup	NP_612408.3:p.Ser359_Leu360insSer