Canonical Allele Identifier: CA90641417

Gene: TMEM44

Linked Data

• dbSNP Id: rs959313137
• gnomAD v2: 3-194325100-C-CG
• gnomAD v3: 3-194604371-C-CG
• gnomAD v4: 3-194604371-C-CG
• MyVariant Identifiers: chr3:g.194325101_194325102insG (hg19) ; chr3:g.194325100_194325101insG (hg19) ; chr3:g.194604372_194604373insG (hg38) ; chr3:g.194604371_194604372insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.194604377dup , CM000665.2:g.194604377dup	GRCh38
NC_000003.11:g.194325106dup , CM000665.1:g.194325106dup	GRCh37
NC_000003.10:g.195806395dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347147.9:c.1091dup MANE Select	ENSP00000333355.6:p.Ser365ValfsTer19
ENST00000347147.8:c.1091dup	ENSP00000333355.6:p.Ser365ValfsTer19
ENST00000381975.7:c.1087dup	ENSP00000371402.3:p.Arg363ProfsTer?
ENST00000392432.6:c.1232dup	ENSP00000376227.2:p.Ser412ValfsTer19
ENST00000419280.5:c.*387dup	ENSP00000414077.1:n.*387dup
ENST00000429560.1:c.283dup	ENSP00000403053.1:p.Arg95ProfsTer?
ENST00000432352.5:c.365dup	ENSP00000409963.1:p.Ser123ValfsTer19
ENST00000452358.5:c.590dup	ENSP00000414333.1:p.Ser198ValfsTer19
ENST00000467284.1:n.137dup
ENST00000473092.5:c.1091dup	ENSP00000418674.1:p.Ser365ValfsTer19
ENST00000477651.5:n.855dup
NM_001011655.2:c.1091dup	NP_001011655.1:p.Ser365ValfsTer19
NM_001166305.1:c.1232dup	NP_001159777.1:p.Ser412ValfsTer19
NM_001166306.1:c.1087dup	NP_001159778.1:p.Arg363ProfsTer?
NM_138399.4:c.1091dup	NP_612408.3:p.Ser365ValfsTer19
XM_005269371.3:c.1091dup	XP_005269428.1:p.Ser365ValfsTer19
XM_011513318.1:c.1241dup	XP_011511620.1:p.Ser415ValfsTer19
XM_011513319.1:c.1178dup	XP_011511621.1:p.Ser394ValfsTer19
XM_011513320.1:c.1289dup	XP_011511622.1:p.Ser431ValfsTer19
XM_011513321.1:c.1157dup	XP_011511623.1:p.Ser387ValfsTer19
XM_011513322.1:c.1148dup	XP_011511624.1:p.Ser384ValfsTer19
XM_011513323.1:c.986dup	XP_011511625.1:p.Ser330ValfsTer19
XM_005269371.4:c.1091dup	XP_005269428.1:p.Ser365ValfsTer19
XM_011513318.2:c.1241dup	XP_011511620.1:p.Ser415ValfsTer19
XM_011513319.2:c.1178dup	XP_011511621.1:p.Ser394ValfsTer19
XM_011513320.2:c.1289dup	XP_011511622.1:p.Ser431ValfsTer19
XM_011513321.2:c.1157dup	XP_011511623.1:p.Ser387ValfsTer19
XM_011513322.2:c.1148dup	XP_011511624.1:p.Ser384ValfsTer19
XM_017007517.1:c.1100dup	XP_016863006.1:p.Ser368ValfsTer19
XM_017007518.1:c.1100dup	XP_016863007.1:p.Ser368ValfsTer19
NM_001011655.3:c.1091dup MANE Select	NP_001011655.1:p.Ser365ValfsTer19
NM_001166305.2:c.1232dup	NP_001159777.1:p.Ser412ValfsTer19
NM_001166306.2:c.1087dup	NP_001159778.1:p.Arg363ProfsTer?
NM_138399.5:c.1091dup	NP_612408.3:p.Ser365ValfsTer19