Canonical Allele Identifier: CA1752367366

Gene: TMEM176A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150804460_150804464delinsCCCAA , CM000669.2:g.150804460_150804464delinsCCCAA	GRCh38
NC_000007.13:g.150501548_150501552delinsCCCAA , CM000669.1:g.150501548_150501552delinsCCCAA	GRCh37
NC_000007.12:g.150132481_150132485delinsCCCAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000004103.8:c.654_658delinsCCCAA MANE Select	ENSP00000004103.3:p.Phe218=
ENST00000468689.2:c.477_481delinsCCCAA	ENSP00000420081.2:p.Phe159=
ENST00000004103.7:c.654_658delinsCCCAA	ENSP00000004103.3:p.Phe218=
ENST00000461345.5:c.477_481delinsCCCAA	ENSP00000420818.1:p.Phe159=
ENST00000462826.1:n.1778-367_1778-363delinsCCCAA
ENST00000474166.1:n.313_317delinsCCCAA
ENST00000475007.5:n.550_554delinsCCCAA
ENST00000475536.5:c.510_514delinsCCCAA	ENSP00000417834.1:p.Phe170=
ENST00000481305.1:n.367-367_367-363delinsCCCAA
ENST00000484928.5:c.654_658delinsCCCAA	ENSP00000417626.1:p.Phe218=
ENST00000494349.5:n.1200_1204delinsCCCAA
NM_018487.2:c.654_658delinsCCCAA	NP_060957.2:p.Phe218=
XM_011516376.1:c.705_709delinsCCCAA	XP_011514678.1:p.Phe235=
XM_011516377.1:c.705_709delinsCCCAA	XP_011514679.1:p.Phe235=
XM_011516378.1:c.607-367_607-363delinsCCCAA	XP_011514680.1:n.607-367_607-363delinsCCCAA
XM_011516376.3:c.705_709delinsCCCAA	XP_011514678.1:p.Phe235=
XM_011516377.2:c.705_709delinsCCCAA	XP_011514679.1:p.Phe235=
XM_011516378.2:c.607-367_607-363delinsCCCAA	XP_011514680.1:n.607-367_607-363delinsCCCAA
XM_017012393.1:c.654_658delinsCCCAA	XP_016867882.1:p.Phe218=
XM_024446824.1:c.556-367_556-363delinsCCCAA	XP_024302592.1:n.556-367_556-363delinsCCCAA
NM_018487.3:c.654_658delinsCCCAA MANE Select	NP_060957.2:p.Phe218=