Canonical Allele Identifier: CA548848422

Gene: TMEM44

Linked Data

• dbSNP Id: rs1258563907
• gnomAD v2: 3-194325145-AC-A
• gnomAD v4: 3-194604416-AC-A
• MyVariant Identifiers: chr3:g.194325146del (hg19) ; chr3:g.194604417del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.194604418del , CM000665.2:g.194604418del	GRCh38
NC_000003.11:g.194325147del , CM000665.1:g.194325147del	GRCh37
NC_000003.10:g.195806436del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347147.9:c.1046del MANE Select	ENSP00000333355.6:p.Gly349ValfsTer?
ENST00000347147.8:c.1046del	ENSP00000333355.6:p.Gly349ValfsTer?
ENST00000381975.7:c.1042del	ENSP00000371402.3:p.Val348Ter
ENST00000392432.6:c.1187del	ENSP00000376227.2:p.Gly396ValfsTer?
ENST00000419280.5:c.*342del	ENSP00000414077.1:n.*342del
ENST00000429560.1:c.238del	ENSP00000403053.1:p.Val80Ter
ENST00000432352.5:c.320del	ENSP00000409963.1:p.Gly107ValfsTer?
ENST00000452358.5:c.545del	ENSP00000414333.1:p.Gly182ValfsTer?
ENST00000467284.1:n.92del
ENST00000473092.5:c.1046del	ENSP00000418674.1:p.Gly349ValfsTer?
ENST00000477651.5:n.810del
NM_001011655.2:c.1046del	NP_001011655.1:p.Gly349ValfsTer?
NM_001166305.1:c.1187del	NP_001159777.1:p.Gly396ValfsTer?
NM_001166306.1:c.1042del	NP_001159778.1:p.Val348Ter
NM_138399.4:c.1046del	NP_612408.3:p.Gly349ValfsTer?
XM_005269371.3:c.1046del	XP_005269428.1:p.Gly349ValfsTer?
XM_011513318.1:c.1196del	XP_011511620.1:p.Gly399ValfsTer?
XM_011513319.1:c.1133del	XP_011511621.1:p.Gly378ValfsTer?
XM_011513320.1:c.1244del	XP_011511622.1:p.Gly415ValfsTer?
XM_011513321.1:c.1112del	XP_011511623.1:p.Gly371ValfsTer?
XM_011513322.1:c.1103del	XP_011511624.1:p.Gly368ValfsTer?
XM_011513323.1:c.941del	XP_011511625.1:p.Gly314ValfsTer?
XM_005269371.4:c.1046del	XP_005269428.1:p.Gly349ValfsTer?
XM_011513318.2:c.1196del	XP_011511620.1:p.Gly399ValfsTer?
XM_011513319.2:c.1133del	XP_011511621.1:p.Gly378ValfsTer?
XM_011513320.2:c.1244del	XP_011511622.1:p.Gly415ValfsTer?
XM_011513321.2:c.1112del	XP_011511623.1:p.Gly371ValfsTer?
XM_011513322.2:c.1103del	XP_011511624.1:p.Gly368ValfsTer?
XM_017007517.1:c.1055del	XP_016863006.1:p.Gly352ValfsTer?
XM_017007518.1:c.1055del	XP_016863007.1:p.Gly352ValfsTer?
NM_001011655.3:c.1046del MANE Select	NP_001011655.1:p.Gly349ValfsTer?
NM_001166305.2:c.1187del	NP_001159777.1:p.Gly396ValfsTer?
NM_001166306.2:c.1042del	NP_001159778.1:p.Val348Ter
NM_138399.5:c.1046del	NP_612408.3:p.Gly349ValfsTer?