Canonical Allele Identifier: CA2691803881

Gene: FPGS

Linked Data

• gnomAD v4: 9-127813556-CCTGGTGGGTGGTGTCCTGAAGCTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813561_127813584del , CM000671.2:g.127813561_127813584del	GRCh38
NC_000009.11:g.130575840_130575863del , CM000671.1:g.130575840_130575863del	GRCh37
NC_000009.10:g.129615661_129615684del	NCBI36
NG_009551.1:g.46189_46212del , LRG_589:g.46189_46212del
NG_023245.1:g.15687_15710del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1721_1744del MANE Select	ENSP00000362344.2:p.Val574_Leu581del
ENST00000373225.7:c.1571_1594del	ENSP00000362322.3:p.Val524_Leu531del
ENST00000373247.6:c.1721_1744del	ENSP00000362344.2:p.Val574_Leu581del
ENST00000393706.6:c.1643_1666del	ENSP00000377309.2:p.Val548_Leu555del
ENST00000460181.5:n.1709_1732del
ENST00000467826.5:n.709+238_709+261del
ENST00000630236.2:c.*445_*468del	ENSP00000486766.1:n.*445_*468del
NM_001018078.2:c.1571_1594del	NP_001018088.1:p.Val524_Leu531del
NM_001288803.1:c.1643_1666del	NP_001275732.1:p.Val548_Leu555del
NM_004957.5:c.1721_1744del	NP_004948.4:p.Val574_Leu581del
NR_110170.1:n.1769_1792del
XM_005251864.2:c.1483+238_1483+261del	XP_005251921.1:n.1483+238_1483+261del
XM_011518437.1:c.1571_1594del	XP_011516739.1:p.Val524_Leu531del
XM_011518438.1:c.1571_1594del	XP_011516740.1:p.Val524_Leu531del
XM_011518439.1:c.878_901del	XP_011516741.1:p.Val293_Leu300del
XR_242581.2:n.1618_1641del
XR_242582.2:n.1380+238_1380+261del
XM_005251864.4:c.1483+238_1483+261del	XP_005251921.1:n.1483+238_1483+261del
XM_011518439.2:c.878_901del	XP_011516741.1:p.Val293_Leu300del
XM_017014565.2:c.1333+238_1333+261del	XP_016870054.1:n.1333+238_1333+261del
XM_017014566.1:c.878_901del	XP_016870055.1:p.Val293_Leu300del
XR_242581.4:n.1616_1639del
XR_242582.4:n.1378+238_1378+261del
NM_004957.6:c.1721_1744del MANE Select	NP_004948.4:p.Val574_Leu581del