Canonical Allele Identifier: CA4565749

Gene: TMEM176A

Linked Data

• dbSNP Id: rs751844229
• ExAC: 7:150501482 G / GGGTGTCTGGATTCTGCTGCTTCT
• gnomAD v2: 7-150501482-G-GGGTGTCTGGATTCTGCTGCTTCT
• gnomAD v3: 7-150804394-G-GGGTGTCTGGATTCTGCTGCTTCT
• gnomAD v4: 7-150804394-G-GGGTGTCTGGATTCTGCTGCTTCT
• MyVariant Identifiers: chr7:g.150501482_150501483insGGTGTCTGGATTCTGCTGCTTCT (hg19) ; chr7:g.150804394_150804395insGGTGTCTGGATTCTGCTGCTTCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150804397_150804419dup , CM000669.2:g.150804397_150804419dup	GRCh38
NC_000007.13:g.150501485_150501507dup , CM000669.1:g.150501485_150501507dup	GRCh37
NC_000007.12:g.150132418_150132440dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000004103.8:c.591_613dup MANE Select	ENSP00000004103.3:p.Ala205ValfsTer11
ENST00000468689.2:c.414_436dup	ENSP00000420081.2:p.Ala146ValfsTer11
ENST00000004103.7:c.591_613dup	ENSP00000004103.3:p.Ala205ValfsTer11
ENST00000461345.5:c.414_436dup	ENSP00000420818.1:p.Ala146ValfsTer11
ENST00000462826.1:n.1778-430_1778-408dup
ENST00000474166.1:n.250_272dup
ENST00000475007.5:n.487_509dup
ENST00000475536.5:c.447_469dup	ENSP00000417834.1:p.Ala157ValfsTer11
ENST00000481305.1:n.367-430_367-408dup
ENST00000484928.5:c.591_613dup	ENSP00000417626.1:p.Ala205ValfsTer11
ENST00000494349.5:n.1137_1159dup
NM_018487.2:c.591_613dup	NP_060957.2:p.Ala205ValfsTer11
XM_011516376.1:c.642_664dup	XP_011514678.1:p.Ala222ValfsTer11
XM_011516377.1:c.642_664dup	XP_011514679.1:p.Ala222ValfsTer11
XM_011516378.1:c.607-430_607-408dup	XP_011514680.1:n.607-430_607-408dup
XM_011516376.3:c.642_664dup	XP_011514678.1:p.Ala222ValfsTer11
XM_011516377.2:c.642_664dup	XP_011514679.1:p.Ala222ValfsTer11
XM_011516378.2:c.607-430_607-408dup	XP_011514680.1:n.607-430_607-408dup
XM_017012393.1:c.591_613dup	XP_016867882.1:p.Ala205ValfsTer11
XM_024446824.1:c.556-430_556-408dup	XP_024302592.1:n.556-430_556-408dup
NM_018487.3:c.591_613dup MANE Select	NP_060957.2:p.Ala205ValfsTer11