Canonical Allele Identifier: CA200296841

Gene: FPGS

Linked Data

• dbSNP Id: rs370782786
• gnomAD v4: 9-127813324-GTGGGTCCGC-G
• MyVariant Identifiers: chr9:g.130575604_130575612del (hg19) ; chr9:g.127813325_127813333del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813325_127813333del , CM000671.2:g.127813325_127813333del	GRCh38
NC_000009.11:g.130575604_130575612del , CM000671.1:g.130575604_130575612del	GRCh37
NC_000009.10:g.129615425_129615433del	NCBI36
NG_009551.1:g.46436_46444del , LRG_589:g.46436_46444del
NG_023245.1:g.15451_15459del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1485_1493del MANE Select	ENSP00000362344.2:p.Gly496_Ala498del
ENST00000373225.7:c.1335_1343del	ENSP00000362322.3:p.Gly446_Ala448del
ENST00000373228.5:c.*142_*150del	ENSP00000362325.1:n.*142_*150del
ENST00000373247.6:c.1485_1493del	ENSP00000362344.2:p.Gly496_Ala498del
ENST00000393706.6:c.1407_1415del	ENSP00000377309.2:p.Gly470_Ala472del
ENST00000460181.5:n.1473_1481del
ENST00000467826.5:n.709+2_709+10del
ENST00000475270.1:n.311_319del
ENST00000630236.2:c.*209_*217del	ENSP00000486766.1:n.*209_*217del
NM_001018078.2:c.1335_1343del	NP_001018088.1:p.Gly446_Ala448del
NM_001288803.1:c.1407_1415del	NP_001275732.1:p.Gly470_Ala472del
NM_004957.5:c.1485_1493del	NP_004948.4:p.Gly496_Ala498del
NR_110170.1:n.1533_1541del
XM_005251864.2:c.1483+2_1483+10del	XP_005251921.1:n.1483+2_1483+10del
XM_011518437.1:c.1335_1343del	XP_011516739.1:p.Gly446_Ala448del
XM_011518438.1:c.1335_1343del	XP_011516740.1:p.Gly446_Ala448del
XM_011518439.1:c.642_650del	XP_011516741.1:p.Gly215_Ala217del
XR_242581.2:n.1382_1390del
XR_242582.2:n.1380+2_1380+10del
XM_005251864.4:c.1483+2_1483+10del	XP_005251921.1:n.1483+2_1483+10del
XM_011518439.2:c.642_650del	XP_011516741.1:p.Gly215_Ala217del
XM_017014565.2:c.1333+2_1333+10del	XP_016870054.1:n.1333+2_1333+10del
XM_017014566.1:c.642_650del	XP_016870055.1:p.Gly215_Ala217del
XR_242581.4:n.1380_1388del
XR_242582.4:n.1378+2_1378+10del
NM_004957.6:c.1485_1493del MANE Select	NP_004948.4:p.Gly496_Ala498del