Canonical Allele Identifier: CA1058446258
Gene: TMEM175 HGNC NCBI

Linked Data

dbSNP Id: rs1727991375
gnomAD v3: 4-945251-CAT-C
gnomAD v4: 4-945251-CAT-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.945252_945253del , CM000666.2:g.945252_945253del GRCh38
NC_000004.11:g.939040_939041del , CM000666.1:g.939040_939041del GRCh37
NC_000004.10:g.929040_929041del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000264771.9:c.-31-2457_-31-2456del MANE Select ENSP00000264771.4:n.-31-2457_-31-2456del
ENST00000264771.8:c.-31-2457_-31-2456del ENSP00000264771.4:n.-31-2457_-31-2456del
ENST00000438836.6:n.70-2457_70-2456del
ENST00000452360.6:n.82-2457_82-2456del
ENST00000504505.1:n.67-2457_67-2456del
ENST00000504744.5:c.-31-2457_-31-2456del ENSP00000423751.1:n.-31-2457_-31-2456del
ENST00000504850.1:n.55-747_55-746del
ENST00000505734.1:n.110-2457_110-2456del
ENST00000507319.5:c.-31-2457_-31-2456del ENSP00000424746.1:n.-31-2457_-31-2456del
ENST00000508204.5:c.-54-5169_-54-5168del ENSP00000423669.1:n.-54-5169_-54-5168del
ENST00000509508.5:c.-54-5169_-54-5168del ENSP00000421750.1:n.-54-5169_-54-5168del
ENST00000510493.5:c.-93-2864_-93-2863del ENSP00000424208.1:n.-93-2864_-93-2863del
ENST00000513682.5:c.-31-2457_-31-2456del ENSP00000427626.1:n.-31-2457_-31-2456del
ENST00000513952.5:c.-31-2457_-31-2456del ENSP00000427218.1:n.-31-2457_-31-2456del
ENST00000514453.5:c.-31-2457_-31-2456del ENSP00000425181.1:n.-31-2457_-31-2456del
ENST00000514546.5:c.-159-747_-159-746del ENSP00000425763.1:n.-159-747_-159-746del
ENST00000515492.5:c.-51-5172_-51-5171del ENSP00000425867.1:n.-51-5172_-51-5171del
ENST00000515740.5:c.-192-5169_-192-5168del ENSP00000427039.1:n.-192-5169_-192-5168del
ENST00000515876.5:n.81-2457_81-2456del
ENST00000622959.3:c.-620-2457_-620-2456del ENSP00000485461.1:n.-620-2457_-620-2456del
NM_001297423.1:c.-738-2457_-738-2456del NP_001284352.1:n.-738-2457_-738-2456del
NM_001297424.1:c.-54-5169_-54-5168del NP_001284353.1:n.-54-5169_-54-5168del
NM_001297425.1:c.-51-5172_-51-5171del NP_001284354.1:n.-51-5172_-51-5171del
NM_001297426.1:c.-620-2457_-620-2456del NP_001284355.1:n.-620-2457_-620-2456del
NM_001297427.1:c.-876-2457_-876-2456del NP_001284356.1:n.-876-2457_-876-2456del
NM_001297428.1:c.-192-5169_-192-5168del NP_001284357.1:n.-192-5169_-192-5168del
NM_032326.3:c.-31-2457_-31-2456del NP_115702.1:n.-31-2457_-31-2456del
XM_005272301.2:c.-31-2457_-31-2456del XP_005272358.1:n.-31-2457_-31-2456del
XM_005272303.3:c.-482-2457_-482-2456del XP_005272360.1:n.-482-2457_-482-2456del
XM_005272304.1:c.-415-2457_-415-2456del XP_005272361.1:n.-415-2457_-415-2456del
XM_005272307.3:c.-31-2457_-31-2456del XP_005272364.1:n.-31-2457_-31-2456del
XM_005272303.4:c.-482-2457_-482-2456del XP_005272360.1:n.-482-2457_-482-2456del
XM_005272307.5:c.-31-2457_-31-2456del XP_005272364.1:n.-31-2457_-31-2456del
XM_017008701.1:c.-159-747_-159-746del XP_016864190.1:n.-159-747_-159-746del
XM_017008703.1:c.-866-747_-866-746del XP_016864192.1:n.-866-747_-866-746del
XM_017008704.2:c.-738-2457_-738-2456del XP_016864193.1:n.-738-2457_-738-2456del
XM_024454252.1:c.-839-2457_-839-2456del XP_024310020.1:n.-839-2457_-839-2456del
XM_024454253.1:c.-1089-747_-1089-746del XP_024310021.1:n.-1089-747_-1089-746del
XM_024454254.1:c.-1227-747_-1227-746del XP_024310022.1:n.-1227-747_-1227-746del
XM_024454255.1:c.-192-5169_-192-5168del XP_024310023.1:n.-192-5169_-192-5168del
NM_032326.4:c.-31-2457_-31-2456del MANE Select NP_115702.1:n.-31-2457_-31-2456del
NM_001297423.2:c.-738-2457_-738-2456del NP_001284352.1:n.-738-2457_-738-2456del
NM_001297424.2:c.-54-5169_-54-5168del NP_001284353.1:n.-54-5169_-54-5168del
NM_001297425.2:c.-51-5172_-51-5171del NP_001284354.1:n.-51-5172_-51-5171del
NM_001297427.2:c.-876-2457_-876-2456del NP_001284356.1:n.-876-2457_-876-2456del
NM_001297428.2:c.-192-5169_-192-5168del NP_001284357.1:n.-192-5169_-192-5168del
NM_001297426.2:c.-620-2457_-620-2456del NP_001284355.1:n.-620-2457_-620-2456del