Canonical Allele Identifier: CA904632920

Gene: TMEM44

Linked Data

• dbSNP Id: rs1283128056
• gnomAD v3: 3-194604378-TC-T
• gnomAD v4: 3-194604378-TC-T
• MyVariant Identifiers: chr3:g.194325108del (hg19) ; chr3:g.194604379del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.194604380del , CM000665.2:g.194604380del	GRCh38
NC_000003.11:g.194325109del , CM000665.1:g.194325109del	GRCh37
NC_000003.10:g.195806398del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347147.9:c.1084del MANE Select	ENSP00000333355.6:p.Asp362ThrfsTer?
ENST00000347147.8:c.1084del	ENSP00000333355.6:p.Asp362ThrfsTer?
ENST00000381975.7:c.1080del	ENSP00000371402.3:p.Thr361ProfsTer21
ENST00000392432.6:c.1225del	ENSP00000376227.2:p.Asp409ThrfsTer?
ENST00000419280.5:c.*380del	ENSP00000414077.1:n.*380del
ENST00000429560.1:c.276del	ENSP00000403053.1:p.Thr93ProfsTer21
ENST00000432352.5:c.358del	ENSP00000409963.1:p.Asp120ThrfsTer?
ENST00000452358.5:c.583del	ENSP00000414333.1:p.Asp195ThrfsTer?
ENST00000467284.1:n.130del
ENST00000473092.5:c.1084del	ENSP00000418674.1:p.Asp362ThrfsTer?
ENST00000477651.5:n.848del
NM_001011655.2:c.1084del	NP_001011655.1:p.Asp362ThrfsTer?
NM_001166305.1:c.1225del	NP_001159777.1:p.Asp409ThrfsTer?
NM_001166306.1:c.1080del	NP_001159778.1:p.Thr361ProfsTer21
NM_138399.4:c.1084del	NP_612408.3:p.Asp362ThrfsTer?
XM_005269371.3:c.1084del	XP_005269428.1:p.Asp362ThrfsTer?
XM_011513318.1:c.1234del	XP_011511620.1:p.Asp412ThrfsTer?
XM_011513319.1:c.1171del	XP_011511621.1:p.Asp391ThrfsTer?
XM_011513320.1:c.1282del	XP_011511622.1:p.Asp428ThrfsTer?
XM_011513321.1:c.1150del	XP_011511623.1:p.Asp384ThrfsTer?
XM_011513322.1:c.1141del	XP_011511624.1:p.Asp381ThrfsTer?
XM_011513323.1:c.979del	XP_011511625.1:p.Asp327ThrfsTer?
XM_005269371.4:c.1084del	XP_005269428.1:p.Asp362ThrfsTer?
XM_011513318.2:c.1234del	XP_011511620.1:p.Asp412ThrfsTer?
XM_011513319.2:c.1171del	XP_011511621.1:p.Asp391ThrfsTer?
XM_011513320.2:c.1282del	XP_011511622.1:p.Asp428ThrfsTer?
XM_011513321.2:c.1150del	XP_011511623.1:p.Asp384ThrfsTer?
XM_011513322.2:c.1141del	XP_011511624.1:p.Asp381ThrfsTer?
XM_017007517.1:c.1093del	XP_016863006.1:p.Asp365ThrfsTer?
XM_017007518.1:c.1093del	XP_016863007.1:p.Asp365ThrfsTer?
NM_001011655.3:c.1084del MANE Select	NP_001011655.1:p.Asp362ThrfsTer?
NM_001166305.2:c.1225del	NP_001159777.1:p.Asp409ThrfsTer?
NM_001166306.2:c.1080del	NP_001159778.1:p.Thr361ProfsTer21
NM_138399.5:c.1084del	NP_612408.3:p.Asp362ThrfsTer?