Canonical Allele Identifier: CA2785996415

Gene: FPGS

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813360_127813361insAAA , CM000671.2:g.127813360_127813361insAAA	GRCh38
NC_000009.11:g.130575639_130575640insAAA , CM000671.1:g.130575639_130575640insAAA	GRCh37
NC_000009.10:g.129615460_129615461insAAA	NCBI36
NG_009551.1:g.46408_46409insTTT , LRG_589:g.46408_46409insTTT
NG_023245.1:g.15486_15487insAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1520_1521insAAA MANE Select	ENSP00000362344.2:p.Pro507_His508insAsn
ENST00000373225.7:c.1370_1371insAAA	ENSP00000362322.3:p.Pro457_His458insAsn
ENST00000373228.5:c.*177_*178insAAA	ENSP00000362325.1:n.*177_*178insAAA
ENST00000373247.6:c.1520_1521insAAA	ENSP00000362344.2:p.Pro507_His508insAsn
ENST00000393706.6:c.1442_1443insAAA	ENSP00000377309.2:p.Pro481_His482insAsn
ENST00000460181.5:n.1508_1509insAAA
ENST00000467826.5:n.709+37_709+38insAAA
ENST00000475270.1:n.346_347insAAA
ENST00000630236.2:c.*244_*245insAAA	ENSP00000486766.1:n.*244_*245insAAA
NM_001018078.2:c.1370_1371insAAA	NP_001018088.1:p.Pro457_His458insAsn
NM_001288803.1:c.1442_1443insAAA	NP_001275732.1:p.Pro481_His482insAsn
NM_004957.5:c.1520_1521insAAA	NP_004948.4:p.Pro507_His508insAsn
NR_110170.1:n.1568_1569insAAA
XM_005251864.2:c.1483+37_1483+38insAAA	XP_005251921.1:n.1483+37_1483+38insAAA
XM_011518437.1:c.1370_1371insAAA	XP_011516739.1:p.Pro457_His458insAsn
XM_011518438.1:c.1370_1371insAAA	XP_011516740.1:p.Pro457_His458insAsn
XM_011518439.1:c.677_678insAAA	XP_011516741.1:p.Pro226_His227insAsn
XR_242581.2:n.1417_1418insAAA
XR_242582.2:n.1380+37_1380+38insAAA
XM_005251864.4:c.1483+37_1483+38insAAA	XP_005251921.1:n.1483+37_1483+38insAAA
XM_011518439.2:c.677_678insAAA	XP_011516741.1:p.Pro226_His227insAsn
XM_017014565.2:c.1333+37_1333+38insAAA	XP_016870054.1:n.1333+37_1333+38insAAA
XM_017014566.1:c.677_678insAAA	XP_016870055.1:p.Pro226_His227insAsn
XR_242581.4:n.1415_1416insAAA
XR_242582.4:n.1378+37_1378+38insAAA
NM_004957.6:c.1520_1521insAAA MANE Select	NP_004948.4:p.Pro507_His508insAsn