Canonical Allele Identifier: CA1879976928

Gene: FPGS

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813349_127813358delinsGCCCCACCCA , CM000671.2:g.127813349_127813358delinsGCCCCACCCA	GRCh38
NC_000009.11:g.130575628_130575637delinsGCCCCACCCA , CM000671.1:g.130575628_130575637delinsGCCCCACCCA	GRCh37
NC_000009.10:g.129615449_129615458delinsGCCCCACCCA	NCBI36
NG_009551.1:g.46411_46420delinsTGGGTGGGGC , LRG_589:g.46411_46420delinsTGGGTGGGGC
NG_023245.1:g.15475_15484delinsGCCCCACCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1509_1518delinsGCCCCACCCA MANE Select	ENSP00000362344.2:p.Ala503=
ENST00000373225.7:c.1359_1368delinsGCCCCACCCA	ENSP00000362322.3:p.Ala453=
ENST00000373228.5:c.*166_*175delinsGCCCCACCCA	ENSP00000362325.1:n.*166_*175delinsGCCCCACCCA
ENST00000373247.6:c.1509_1518delinsGCCCCACCCA	ENSP00000362344.2:p.Ala503=
ENST00000393706.6:c.1431_1440delinsGCCCCACCCA	ENSP00000377309.2:p.Ala477=
ENST00000460181.5:n.1497_1506delinsGCCCCACCCA
ENST00000467826.5:n.709+26_709+35delinsGCCCCACCCA
ENST00000475270.1:n.335_344delinsGCCCCACCCA
ENST00000630236.2:c.*233_*242delinsGCCCCACCCA	ENSP00000486766.1:n.*233_*242delinsGCCCCACCCA
NM_001018078.2:c.1359_1368delinsGCCCCACCCA	NP_001018088.1:p.Ala453=
NM_001288803.1:c.1431_1440delinsGCCCCACCCA	NP_001275732.1:p.Ala477=
NM_004957.5:c.1509_1518delinsGCCCCACCCA	NP_004948.4:p.Ala503=
NR_110170.1:n.1557_1566delinsGCCCCACCCA
XM_005251864.2:c.1483+26_1483+35delinsGCCCCACCCA	XP_005251921.1:n.1483+26_1483+35delinsGCCCCACCCA
XM_011518437.1:c.1359_1368delinsGCCCCACCCA	XP_011516739.1:p.Ala453=
XM_011518438.1:c.1359_1368delinsGCCCCACCCA	XP_011516740.1:p.Ala453=
XM_011518439.1:c.666_675delinsGCCCCACCCA	XP_011516741.1:p.Ala222=
XR_242581.2:n.1406_1415delinsGCCCCACCCA
XR_242582.2:n.1380+26_1380+35delinsGCCCCACCCA
XM_005251864.4:c.1483+26_1483+35delinsGCCCCACCCA	XP_005251921.1:n.1483+26_1483+35delinsGCCCCACCCA
XM_011518439.2:c.666_675delinsGCCCCACCCA	XP_011516741.1:p.Ala222=
XM_017014565.2:c.1333+26_1333+35delinsGCCCCACCCA	XP_016870054.1:n.1333+26_1333+35delinsGCCCCACCCA
XM_017014566.1:c.666_675delinsGCCCCACCCA	XP_016870055.1:p.Ala222=
XR_242581.4:n.1404_1413delinsGCCCCACCCA
XR_242582.4:n.1378+26_1378+35delinsGCCCCACCCA
NM_004957.6:c.1509_1518delinsGCCCCACCCA MANE Select	NP_004948.4:p.Ala503=