Canonical Allele Identifier: CA2691803876

Gene: FPGS

Linked Data

• gnomAD v4: 9-127813360-CCCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813362_127813364del , CM000671.2:g.127813362_127813364del	GRCh38
NC_000009.11:g.130575641_130575643del , CM000671.1:g.130575641_130575643del	GRCh37
NC_000009.10:g.129615462_129615464del	NCBI36
NG_009551.1:g.46406_46408del , LRG_589:g.46406_46408del
NG_023245.1:g.15488_15490del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1522_1524del MANE Select	ENSP00000362344.2:p.His508del
ENST00000373225.7:c.1372_1374del	ENSP00000362322.3:p.His458del
ENST00000373228.5:c.*179_*181del	ENSP00000362325.1:n.*179_*181del
ENST00000373247.6:c.1522_1524del	ENSP00000362344.2:p.His508del
ENST00000393706.6:c.1444_1446del	ENSP00000377309.2:p.His482del
ENST00000460181.5:n.1510_1512del
ENST00000467826.5:n.709+39_709+41del
ENST00000475270.1:n.348_350del
ENST00000630236.2:c.*246_*248del	ENSP00000486766.1:n.*246_*248del
NM_001018078.2:c.1372_1374del	NP_001018088.1:p.His458del
NM_001288803.1:c.1444_1446del	NP_001275732.1:p.His482del
NM_004957.5:c.1522_1524del	NP_004948.4:p.His508del
NR_110170.1:n.1570_1572del
XM_005251864.2:c.1483+39_1483+41del	XP_005251921.1:n.1483+39_1483+41del
XM_011518437.1:c.1372_1374del	XP_011516739.1:p.His458del
XM_011518438.1:c.1372_1374del	XP_011516740.1:p.His458del
XM_011518439.1:c.679_681del	XP_011516741.1:p.His227del
XR_242581.2:n.1419_1421del
XR_242582.2:n.1380+39_1380+41del
XM_005251864.4:c.1483+39_1483+41del	XP_005251921.1:n.1483+39_1483+41del
XM_011518439.2:c.679_681del	XP_011516741.1:p.His227del
XM_017014565.2:c.1333+39_1333+41del	XP_016870054.1:n.1333+39_1333+41del
XM_017014566.1:c.679_681del	XP_016870055.1:p.His227del
XR_242581.4:n.1417_1419del
XR_242582.4:n.1378+39_1378+41del
NM_004957.6:c.1522_1524del MANE Select	NP_004948.4:p.His508del