Canonical Allele Identifier: CA531977315

Gene: TMEM178A

Linked Data

• gnomAD v2: 2-39939192-T-TGTGG
• MyVariant Identifiers: chr2:g.39939192_39939193insGTGG (hg19) ; chr2:g.39712052_39712053insGTGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39712055_39712056insGGTG , CM000664.2:g.39712055_39712056insGGTG	GRCh38
NC_000002.11:g.39939195_39939196insGGTG , CM000664.1:g.39939195_39939196insGGTG	GRCh37
NC_000002.10:g.39792699_39792700insGGTG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281961.3:c.652+4869_652+4870insGGTG MANE Select	ENSP00000281961.2:n.652+4869_652+4870insGGTG
ENST00000281961.2:c.652+4869_652+4870insGGTG	ENSP00000281961.2:n.652+4869_652+4870insGGTG
ENST00000413011.5:n.371+4869_371+4870insGGTG
ENST00000482239.5:n.395+4869_395+4870insGGTG
ENST00000495402.1:n.431+4869_431+4870insGGTG
ENST00000618232.1:c.*42-4955_*42-4954insGGTG	ENSP00000477622.1:n.*42-4955_*42-4954insGGTG
NM_001167959.1:c.106+4869_106+4870insGGTG	NP_001161431.1:n.106+4869_106+4870insGGTG
NM_152390.2:c.652+4869_652+4870insGGTG	NP_689603.2:n.652+4869_652+4870insGGTG
XM_005264144.1:c.515-4955_515-4954insGGTG	XP_005264201.1:n.515-4955_515-4954insGGTG
XM_005264145.1:c.401-4955_401-4954insGGTG	XP_005264202.1:n.401-4955_401-4954insGGTG
XM_017003369.1:c.*513_*514insGGTG	XP_016858858.1:n.*513_*514insGGTG
XM_017003370.2:c.106+4869_106+4870insGGTG	XP_016858859.1:n.106+4869_106+4870insGGTG
XM_017003371.1:c.106+4869_106+4870insGGTG	XP_016858860.1:n.106+4869_106+4870insGGTG
XM_024452702.1:c.401-23174_401-23173insGGTG	XP_024308470.1:n.401-23174_401-23173insGGTG
XM_024452703.1:c.106+4869_106+4870insGGTG	XP_024308471.1:n.106+4869_106+4870insGGTG
XM_024452704.1:c.106+4869_106+4870insGGTG	XP_024308472.1:n.106+4869_106+4870insGGTG
XM_024452705.1:c.106+4869_106+4870insGGTG	XP_024308473.1:n.106+4869_106+4870insGGTG
NM_152390.3:c.652+4869_652+4870insGGTG MANE Select	NP_689603.2:n.652+4869_652+4870insGGTG
NM_001167959.2:c.106+4869_106+4870insGGTG	NP_001161431.1:n.106+4869_106+4870insGGTG