Canonical Allele Identifier: CA768613059

Gene: TMEM178A

Linked Data

• dbSNP Id: rs1221189439
• gnomAD v3: 2-39712006-A-ATTTTTTC
• gnomAD v4: 2-39712006-A-ATTTTTTC
• MyVariant Identifiers: chr2:g.39939146_39939147insTTTTTTC (hg19) ; chr2:g.39712006_39712007insTTTTTTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39712007_39712008insTTTTTCT , CM000664.2:g.39712007_39712008insTTTTTCT	GRCh38
NC_000002.11:g.39939147_39939148insTTTTTCT , CM000664.1:g.39939147_39939148insTTTTTCT	GRCh37
NC_000002.10:g.39792651_39792652insTTTTTCT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281961.3:c.652+4821_652+4822insTTTTTCT MANE Select	ENSP00000281961.2:n.652+4821_652+4822insTTTTTCT
ENST00000281961.2:c.652+4821_652+4822insTTTTTCT	ENSP00000281961.2:n.652+4821_652+4822insTTTTTCT
ENST00000413011.5:n.371+4821_371+4822insTTTTTCT
ENST00000482239.5:n.395+4821_395+4822insTTTTTCT
ENST00000495402.1:n.431+4821_431+4822insTTTTTCT
ENST00000618232.1:c.*42-5003_*42-5002insTTTTTCT	ENSP00000477622.1:n.*42-5003_*42-5002insTTTTTCT
NM_001167959.1:c.106+4821_106+4822insTTTTTCT	NP_001161431.1:n.106+4821_106+4822insTTTTTCT
NM_152390.2:c.652+4821_652+4822insTTTTTCT	NP_689603.2:n.652+4821_652+4822insTTTTTCT
XM_005264144.1:c.515-5003_515-5002insTTTTTCT	XP_005264201.1:n.515-5003_515-5002insTTTTTCT
XM_005264145.1:c.401-5003_401-5002insTTTTTCT	XP_005264202.1:n.401-5003_401-5002insTTTTTCT
XM_017003369.1:c.*465_*466insTTTTTCT	XP_016858858.1:n.*465_*466insTTTTTCT
XM_017003370.2:c.106+4821_106+4822insTTTTTCT	XP_016858859.1:n.106+4821_106+4822insTTTTTCT
XM_017003371.1:c.106+4821_106+4822insTTTTTCT	XP_016858860.1:n.106+4821_106+4822insTTTTTCT
XM_024452702.1:c.401-23222_401-23221insTTTTTCT	XP_024308470.1:n.401-23222_401-23221insTTTTTCT
XM_024452703.1:c.106+4821_106+4822insTTTTTCT	XP_024308471.1:n.106+4821_106+4822insTTTTTCT
XM_024452704.1:c.106+4821_106+4822insTTTTTCT	XP_024308472.1:n.106+4821_106+4822insTTTTTCT
XM_024452705.1:c.106+4821_106+4822insTTTTTCT	XP_024308473.1:n.106+4821_106+4822insTTTTTCT
NM_152390.3:c.652+4821_652+4822insTTTTTCT MANE Select	NP_689603.2:n.652+4821_652+4822insTTTTTCT
NM_001167959.2:c.106+4821_106+4822insTTTTTCT	NP_001161431.1:n.106+4821_106+4822insTTTTTCT