Canonical Allele Identifier: CA2840908261

Gene: FPGS

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813639_127813651del , CM000671.2:g.127813639_127813651del	GRCh38
NC_000009.11:g.130575918_130575930del , CM000671.1:g.130575918_130575930del	GRCh37
NC_000009.10:g.129615739_129615751del	NCBI36
NG_009551.1:g.46118_46130del , LRG_589:g.46118_46130del
NG_023245.1:g.15765_15777del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.*35_*47del MANE Select	ENSP00000362344.2:n.*35_*47del
ENST00000373225.7:c.*35_*47del	ENSP00000362322.3:n.*35_*47del
ENST00000373247.6:c.*35_*47del	ENSP00000362344.2:n.*35_*47del
ENST00000393706.6:c.*35_*47del	ENSP00000377309.2:n.*35_*47del
ENST00000460181.5:n.1787_1799del
ENST00000467826.5:n.709+316_709+328del
ENST00000630236.2:c.*523_*535del	ENSP00000486766.1:n.*523_*535del
NM_001018078.2:c.*35_*47del	NP_001018088.1:n.*35_*47del
NM_001288803.1:c.*35_*47del	NP_001275732.1:n.*35_*47del
NM_004957.5:c.*35_*47del	NP_004948.4:n.*35_*47del
NR_110170.1:n.1847_1859del
XM_005251864.2:c.1483+316_1483+328del	XP_005251921.1:n.1483+316_1483+328del
XM_011518437.1:c.*35_*47del	XP_011516739.1:n.*35_*47del
XM_011518438.1:c.*35_*47del	XP_011516740.1:n.*35_*47del
XM_011518439.1:c.*35_*47del	XP_011516741.1:n.*35_*47del
XR_242581.2:n.1696_1708del
XR_242582.2:n.1380+316_1380+328del
XM_005251864.4:c.1483+316_1483+328del	XP_005251921.1:n.1483+316_1483+328del
XM_011518439.2:c.*35_*47del	XP_011516741.1:n.*35_*47del
XM_017014565.2:c.1333+316_1333+328del	XP_016870054.1:n.1333+316_1333+328del
XM_017014566.1:c.*35_*47del	XP_016870055.1:n.*35_*47del
XR_242581.4:n.1694_1706del
XR_242582.4:n.1378+316_1378+328del
NM_004957.6:c.*35_*47del MANE Select	NP_004948.4:n.*35_*47del