Canonical Allele Identifier: CA1029629116

Gene: TMEM178A

Linked Data

• dbSNP Id: rs1672331850
• gnomAD v3: 2-39712046-T-TGTGTGTGTGTGC
• gnomAD v4: 2-39712046-T-TGTGTGTGTGTGC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39712057_39712058insCGTGTGTGTGTG , CM000664.2:g.39712057_39712058insCGTGTGTGTGTG	GRCh38
NC_000002.11:g.39939197_39939198insCGTGTGTGTGTG , CM000664.1:g.39939197_39939198insCGTGTGTGTGTG	GRCh37
NC_000002.10:g.39792701_39792702insCGTGTGTGTGTG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281961.3:c.652+4871_652+4872insCGTGTGTGTGTG MANE Select	ENSP00000281961.2:n.652+4871_652+4872insCGTGTGTGTGTG
ENST00000281961.2:c.652+4871_652+4872insCGTGTGTGTGTG	ENSP00000281961.2:n.652+4871_652+4872insCGTGTGTGTGTG
ENST00000413011.5:n.371+4871_371+4872insCGTGTGTGTGTG
ENST00000482239.5:n.395+4871_395+4872insCGTGTGTGTGTG
ENST00000495402.1:n.431+4871_431+4872insCGTGTGTGTGTG
ENST00000618232.1:c.*42-4953_*42-4952insCGTGTGTGTGTG	ENSP00000477622.1:n.*42-4953_*42-4952insCGTGTGTGTGTG
NM_001167959.1:c.106+4871_106+4872insCGTGTGTGTGTG	NP_001161431.1:n.106+4871_106+4872insCGTGTGTGTGTG
NM_152390.2:c.652+4871_652+4872insCGTGTGTGTGTG	NP_689603.2:n.652+4871_652+4872insCGTGTGTGTGTG
XM_005264144.1:c.515-4953_515-4952insCGTGTGTGTGTG	XP_005264201.1:n.515-4953_515-4952insCGTGTGTGTGTG
XM_005264145.1:c.401-4953_401-4952insCGTGTGTGTGTG	XP_005264202.1:n.401-4953_401-4952insCGTGTGTGTGTG
XM_017003369.1:c.*515_*516insCGTGTGTGTGTG	XP_016858858.1:n.*515_*516insCGTGTGTGTGTG
XM_017003370.2:c.106+4871_106+4872insCGTGTGTGTGTG	XP_016858859.1:n.106+4871_106+4872insCGTGTGTGTGTG
XM_017003371.1:c.106+4871_106+4872insCGTGTGTGTGTG	XP_016858860.1:n.106+4871_106+4872insCGTGTGTGTGTG
XM_024452702.1:c.401-23172_401-23171insCGTGTGTGTGTG	XP_024308470.1:n.401-23172_401-23171insCGTGTGTGTGTG
XM_024452703.1:c.106+4871_106+4872insCGTGTGTGTGTG	XP_024308471.1:n.106+4871_106+4872insCGTGTGTGTGTG
XM_024452704.1:c.106+4871_106+4872insCGTGTGTGTGTG	XP_024308472.1:n.106+4871_106+4872insCGTGTGTGTGTG
XM_024452705.1:c.106+4871_106+4872insCGTGTGTGTGTG	XP_024308473.1:n.106+4871_106+4872insCGTGTGTGTGTG
NM_152390.3:c.652+4871_652+4872insCGTGTGTGTGTG MANE Select	NP_689603.2:n.652+4871_652+4872insCGTGTGTGTGTG
NM_001167959.2:c.106+4871_106+4872insCGTGTGTGTGTG	NP_001161431.1:n.106+4871_106+4872insCGTGTGTGTGTG