Canonical Allele Identifier: CA1246491317
Gene: TMEM178A HGNC NCBI

Linked Data

dbSNP Id: rs1672327157

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39712041_39712044del , CM000664.2:g.39712041_39712044del GRCh38
NC_000002.11:g.39939181_39939184del , CM000664.1:g.39939181_39939184del GRCh37
NC_000002.10:g.39792685_39792688del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000281961.3:c.652+4855_652+4858del MANE Select ENSP00000281961.2:n.652+4855_652+4858del
ENST00000281961.2:c.652+4855_652+4858del ENSP00000281961.2:n.652+4855_652+4858del
ENST00000413011.5:n.371+4855_371+4858del
ENST00000482239.5:n.395+4855_395+4858del
ENST00000495402.1:n.431+4855_431+4858del
ENST00000618232.1:c.*42-4969_*42-4966del ENSP00000477622.1:n.*42-4969_*42-4966del
NM_001167959.1:c.106+4855_106+4858del NP_001161431.1:n.106+4855_106+4858del
NM_152390.2:c.652+4855_652+4858del NP_689603.2:n.652+4855_652+4858del
XM_005264144.1:c.515-4969_515-4966del XP_005264201.1:n.515-4969_515-4966del
XM_005264145.1:c.401-4969_401-4966del XP_005264202.1:n.401-4969_401-4966del
XM_017003369.1:c.*499_*502del XP_016858858.1:n.*499_*502del
XM_017003370.2:c.106+4855_106+4858del XP_016858859.1:n.106+4855_106+4858del
XM_017003371.1:c.106+4855_106+4858del XP_016858860.1:n.106+4855_106+4858del
XM_024452702.1:c.401-23188_401-23185del XP_024308470.1:n.401-23188_401-23185del
XM_024452703.1:c.106+4855_106+4858del XP_024308471.1:n.106+4855_106+4858del
XM_024452704.1:c.106+4855_106+4858del XP_024308472.1:n.106+4855_106+4858del
XM_024452705.1:c.106+4855_106+4858del XP_024308473.1:n.106+4855_106+4858del
NM_152390.3:c.652+4855_652+4858del MANE Select NP_689603.2:n.652+4855_652+4858del
NM_001167959.2:c.106+4855_106+4858del NP_001161431.1:n.106+4855_106+4858del