Canonical Allele Identifier: CA1029629169

Gene: TMEM178A

Linked Data

• gnomAD v3: 2-39712080-A-AGTGTGTGTGTGTGTGTGTGT
• gnomAD v4: 2-39712080-A-AGTGTGTGTGTGTGTGTGTGT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39712081_39712082insTGTGTGTGTGTGTGTGTGTG , CM000664.2:g.39712081_39712082insTGTGTGTGTGTGTGTGTGTG	GRCh38
NC_000002.11:g.39939221_39939222insTGTGTGTGTGTGTGTGTGTG , CM000664.1:g.39939221_39939222insTGTGTGTGTGTGTGTGTGTG	GRCh37
NC_000002.10:g.39792725_39792726insTGTGTGTGTGTGTGTGTGTG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281961.3:c.652+4895_652+4896insTGTGTGTGTGTGTGTGTGTG MANE Select	ENSP00000281961.2:n.652+4895_652+4896insTGTGTGTGTGTGTGTGTGTG
ENST00000281961.2:c.652+4895_652+4896insTGTGTGTGTGTGTGTGTGTG	ENSP00000281961.2:n.652+4895_652+4896insTGTGTGTGTGTGTGTGTGTG
ENST00000413011.5:n.371+4895_371+4896insTGTGTGTGTGTGTGTGTGTG
ENST00000482239.5:n.395+4895_395+4896insTGTGTGTGTGTGTGTGTGTG
ENST00000495402.1:n.431+4895_431+4896insTGTGTGTGTGTGTGTGTGTG
ENST00000618232.1:c.*42-4929_*42-4928insTGTGTGTGTGTGTGTGTGTG	ENSP00000477622.1:n.*42-4929_*42-4928insTGTGTGTGTGTGTGTGTGTG
NM_001167959.1:c.106+4895_106+4896insTGTGTGTGTGTGTGTGTGTG	NP_001161431.1:n.106+4895_106+4896insTGTGTGTGTGTGTGTGTGTG
NM_152390.2:c.652+4895_652+4896insTGTGTGTGTGTGTGTGTGTG	NP_689603.2:n.652+4895_652+4896insTGTGTGTGTGTGTGTGTGTG
XM_005264144.1:c.515-4929_515-4928insTGTGTGTGTGTGTGTGTGTG	XP_005264201.1:n.515-4929_515-4928insTGTGTGTGTGTGTGTGTGTG
XM_005264145.1:c.401-4929_401-4928insTGTGTGTGTGTGTGTGTGTG	XP_005264202.1:n.401-4929_401-4928insTGTGTGTGTGTGTGTGTGTG
XM_017003369.1:c.*539_*540insTGTGTGTGTGTGTGTGTGTG	XP_016858858.1:n.*539_*540insTGTGTGTGTGTGTGTGTGTG
XM_017003370.2:c.106+4895_106+4896insTGTGTGTGTGTGTGTGTGTG	XP_016858859.1:n.106+4895_106+4896insTGTGTGTGTGTGTGTGTGTG
XM_017003371.1:c.106+4895_106+4896insTGTGTGTGTGTGTGTGTGTG	XP_016858860.1:n.106+4895_106+4896insTGTGTGTGTGTGTGTGTGTG
XM_024452702.1:c.401-23148_401-23147insTGTGTGTGTGTGTGTGTGTG	XP_024308470.1:n.401-23148_401-23147insTGTGTGTGTGTGTGTGTGTG
XM_024452703.1:c.106+4895_106+4896insTGTGTGTGTGTGTGTGTGTG	XP_024308471.1:n.106+4895_106+4896insTGTGTGTGTGTGTGTGTGTG
XM_024452704.1:c.106+4895_106+4896insTGTGTGTGTGTGTGTGTGTG	XP_024308472.1:n.106+4895_106+4896insTGTGTGTGTGTGTGTGTGTG
XM_024452705.1:c.106+4895_106+4896insTGTGTGTGTGTGTGTGTGTG	XP_024308473.1:n.106+4895_106+4896insTGTGTGTGTGTGTGTGTGTG
NM_152390.3:c.652+4895_652+4896insTGTGTGTGTGTGTGTGTGTG MANE Select	NP_689603.2:n.652+4895_652+4896insTGTGTGTGTGTGTGTGTGTG
NM_001167959.2:c.106+4895_106+4896insTGTGTGTGTGTGTGTGTGTG	NP_001161431.1:n.106+4895_106+4896insTGTGTGTGTGTGTGTGTGTG