Canonical Allele Identifier: CA578700397

Gene: TMEM176A

Linked Data

• dbSNP Id: rs1420017900
• gnomAD v2: 7-150501454-TG-T
• gnomAD v4: 7-150804366-TG-T
• MyVariant Identifiers: chr7:g.150501455del (hg19) ; chr7:g.150804367del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150804367del , CM000669.2:g.150804367del	GRCh38
NC_000007.13:g.150501455del , CM000669.1:g.150501455del	GRCh37
NC_000007.12:g.150132388del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000004103.8:c.561del MANE Select	ENSP00000004103.3:p.Leu187PhefsTer21
ENST00000468689.2:c.384del	ENSP00000420081.2:p.Leu128PhefsTer21
ENST00000004103.7:c.561del	ENSP00000004103.3:p.Leu187PhefsTer21
ENST00000461345.5:c.384del	ENSP00000420818.1:p.Leu128PhefsTer21
ENST00000462826.1:n.1778-460del
ENST00000474166.1:n.220del
ENST00000475007.5:n.457del
ENST00000475536.5:c.417del	ENSP00000417834.1:p.Leu139PhefsTer21
ENST00000481305.1:n.367-460del
ENST00000484928.5:c.561del	ENSP00000417626.1:p.Leu187PhefsTer21
ENST00000494349.5:n.1107del
NM_018487.2:c.561del	NP_060957.2:p.Leu187PhefsTer21
XM_011516376.1:c.612del	XP_011514678.1:p.Leu204PhefsTer21
XM_011516377.1:c.612del	XP_011514679.1:p.Leu204PhefsTer21
XM_011516378.1:c.607-460del	XP_011514680.1:n.607-460del
XM_011516376.3:c.612del	XP_011514678.1:p.Leu204PhefsTer21
XM_011516377.2:c.612del	XP_011514679.1:p.Leu204PhefsTer21
XM_011516378.2:c.607-460del	XP_011514680.1:n.607-460del
XM_017012393.1:c.561del	XP_016867882.1:p.Leu187PhefsTer21
XM_024446824.1:c.556-460del	XP_024302592.1:n.556-460del
NM_018487.3:c.561del MANE Select	NP_060957.2:p.Leu187PhefsTer21