Canonical Allele Identifier: CA2785996417

Gene: FPGS

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813361_127813362insACACCCAA , CM000671.2:g.127813361_127813362insACACCCAA	GRCh38
NC_000009.11:g.130575640_130575641insACACCCAA , CM000671.1:g.130575640_130575641insACACCCAA	GRCh37
NC_000009.10:g.129615461_129615462insACACCCAA	NCBI36
NG_009551.1:g.46407_46408insTTGGGTGT , LRG_589:g.46407_46408insTTGGGTGT
NG_023245.1:g.15487_15488insACACCCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1521_1522insACACCCAA MANE Select	ENSP00000362344.2:p.His508ThrfsTer?
ENST00000373225.7:c.1371_1372insACACCCAA	ENSP00000362322.3:p.His458ThrfsTer?
ENST00000373228.5:c.*178_*179insACACCCAA	ENSP00000362325.1:n.*178_*179insACACCCAA
ENST00000373247.6:c.1521_1522insACACCCAA	ENSP00000362344.2:p.His508ThrfsTer?
ENST00000393706.6:c.1443_1444insACACCCAA	ENSP00000377309.2:p.His482ThrfsTer?
ENST00000460181.5:n.1509_1510insACACCCAA
ENST00000467826.5:n.709+38_709+39insACACCCAA
ENST00000475270.1:n.347_348insACACCCAA
ENST00000630236.2:c.*245_*246insACACCCAA	ENSP00000486766.1:n.*245_*246insACACCCAA
NM_001018078.2:c.1371_1372insACACCCAA	NP_001018088.1:p.His458ThrfsTer?
NM_001288803.1:c.1443_1444insACACCCAA	NP_001275732.1:p.His482ThrfsTer?
NM_004957.5:c.1521_1522insACACCCAA	NP_004948.4:p.His508ThrfsTer?
NR_110170.1:n.1569_1570insACACCCAA
XM_005251864.2:c.1483+38_1483+39insACACCCAA	XP_005251921.1:n.1483+38_1483+39insACACCCAA
XM_011518437.1:c.1371_1372insACACCCAA	XP_011516739.1:p.His458ThrfsTer?
XM_011518438.1:c.1371_1372insACACCCAA	XP_011516740.1:p.His458ThrfsTer?
XM_011518439.1:c.678_679insACACCCAA	XP_011516741.1:p.His227ThrfsTer?
XR_242581.2:n.1418_1419insACACCCAA
XR_242582.2:n.1380+38_1380+39insACACCCAA
XM_005251864.4:c.1483+38_1483+39insACACCCAA	XP_005251921.1:n.1483+38_1483+39insACACCCAA
XM_011518439.2:c.678_679insACACCCAA	XP_011516741.1:p.His227ThrfsTer?
XM_017014565.2:c.1333+38_1333+39insACACCCAA	XP_016870054.1:n.1333+38_1333+39insACACCCAA
XM_017014566.1:c.678_679insACACCCAA	XP_016870055.1:p.His227ThrfsTer?
XR_242581.4:n.1416_1417insACACCCAA
XR_242582.4:n.1378+38_1378+39insACACCCAA
NM_004957.6:c.1521_1522insACACCCAA MANE Select	NP_004948.4:p.His508ThrfsTer?