Canonical Allele Identifier: CA1879977026

Gene: FPGS

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813381_127813384delinsCCCT , CM000671.2:g.127813381_127813384delinsCCCT	GRCh38
NC_000009.11:g.130575660_130575663delinsCCCT , CM000671.1:g.130575660_130575663delinsCCCT	GRCh37
NC_000009.10:g.129615481_129615484delinsCCCT	NCBI36
NG_009551.1:g.46385_46388delinsAGGG , LRG_589:g.46385_46388delinsAGGG
NG_023245.1:g.15507_15510delinsCCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1541_1544delinsCCCT MANE Select	ENSP00000362344.2:p.Ser514=
ENST00000373225.7:c.1391_1394delinsCCCT	ENSP00000362322.3:p.Ser464=
ENST00000373228.5:c.*198_*201delinsCCCT	ENSP00000362325.1:n.*198_*201delinsCCCT
ENST00000373247.6:c.1541_1544delinsCCCT	ENSP00000362344.2:p.Ser514=
ENST00000393706.6:c.1463_1466delinsCCCT	ENSP00000377309.2:p.Ser488=
ENST00000460181.5:n.1529_1532delinsCCCT
ENST00000467826.5:n.709+58_709+61delinsCCCT
ENST00000475270.1:n.367_370delinsCCCT
ENST00000630236.2:c.*265_*268delinsCCCT	ENSP00000486766.1:n.*265_*268delinsCCCT
NM_001018078.2:c.1391_1394delinsCCCT	NP_001018088.1:p.Ser464=
NM_001288803.1:c.1463_1466delinsCCCT	NP_001275732.1:p.Ser488=
NM_004957.5:c.1541_1544delinsCCCT	NP_004948.4:p.Ser514=
NR_110170.1:n.1589_1592delinsCCCT
XM_005251864.2:c.1483+58_1483+61delinsCCCT	XP_005251921.1:n.1483+58_1483+61delinsCCCT
XM_011518437.1:c.1391_1394delinsCCCT	XP_011516739.1:p.Ser464=
XM_011518438.1:c.1391_1394delinsCCCT	XP_011516740.1:p.Ser464=
XM_011518439.1:c.698_701delinsCCCT	XP_011516741.1:p.Ser233=
XR_242581.2:n.1438_1441delinsCCCT
XR_242582.2:n.1380+58_1380+61delinsCCCT
XM_005251864.4:c.1483+58_1483+61delinsCCCT	XP_005251921.1:n.1483+58_1483+61delinsCCCT
XM_011518439.2:c.698_701delinsCCCT	XP_011516741.1:p.Ser233=
XM_017014565.2:c.1333+58_1333+61delinsCCCT	XP_016870054.1:n.1333+58_1333+61delinsCCCT
XM_017014566.1:c.698_701delinsCCCT	XP_016870055.1:p.Ser233=
XR_242581.4:n.1436_1439delinsCCCT
XR_242582.4:n.1378+58_1378+61delinsCCCT
NM_004957.6:c.1541_1544delinsCCCT MANE Select	NP_004948.4:p.Ser514=