Canonical Allele Identifier: CA531977312

Gene: TMEM178A

Linked Data

• dbSNP Id: rs1358849431
• gnomAD v2: 2-39939182-TG-T
• gnomAD v3: 2-39712042-TG-T
• gnomAD v4: 2-39712042-TG-T
• MyVariant Identifiers: chr2:g.39939183del (hg19) ; chr2:g.39712043del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39712043del , CM000664.2:g.39712043del	GRCh38
NC_000002.11:g.39939183del , CM000664.1:g.39939183del	GRCh37
NC_000002.10:g.39792687del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281961.3:c.652+4857del MANE Select	ENSP00000281961.2:n.652+4857del
ENST00000281961.2:c.652+4857del	ENSP00000281961.2:n.652+4857del
ENST00000413011.5:n.371+4857del
ENST00000482239.5:n.395+4857del
ENST00000495402.1:n.431+4857del
ENST00000618232.1:c.*42-4967del	ENSP00000477622.1:n.*42-4967del
NM_001167959.1:c.106+4857del	NP_001161431.1:n.106+4857del
NM_152390.2:c.652+4857del	NP_689603.2:n.652+4857del
XM_005264144.1:c.515-4967del	XP_005264201.1:n.515-4967del
XM_005264145.1:c.401-4967del	XP_005264202.1:n.401-4967del
XM_017003369.1:c.*501del	XP_016858858.1:n.*501del
XM_017003370.2:c.106+4857del	XP_016858859.1:n.106+4857del
XM_017003371.1:c.106+4857del	XP_016858860.1:n.106+4857del
XM_024452702.1:c.401-23186del	XP_024308470.1:n.401-23186del
XM_024452703.1:c.106+4857del	XP_024308471.1:n.106+4857del
XM_024452704.1:c.106+4857del	XP_024308472.1:n.106+4857del
XM_024452705.1:c.106+4857del	XP_024308473.1:n.106+4857del
NM_152390.3:c.652+4857del MANE Select	NP_689603.2:n.652+4857del
NM_001167959.2:c.106+4857del	NP_001161431.1:n.106+4857del