Canonical Allele Identifier: CA5252552

Gene: FPGS

Linked Data

• dbSNP Id: rs781036689
• ExAC: 9:130575903 GTGGGAGCTTCCCACACCTGCC / G
• gnomAD v2: 9-130575903-GTGGGAGCTTCCCACACCTGCC-G
• gnomAD v4: 9-127813624-GTGGGAGCTTCCCACACCTGCC-G
• MyVariant Identifiers: chr9:g.130575904_130575924del (hg19) ; chr9:g.127813625_127813645del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813627_127813647del , CM000671.2:g.127813627_127813647del	GRCh38
NC_000009.11:g.130575906_130575926del , CM000671.1:g.130575906_130575926del	GRCh37
NC_000009.10:g.129615727_129615747del	NCBI36
NG_009551.1:g.46124_46144del , LRG_589:g.46124_46144del
NG_023245.1:g.15753_15773del

Transcript Alleles

HGVS	Amino-acid change
ENST00000373247.7:c.*23_*43del MANE Select	ENSP00000362344.2:n.*23_*43del
ENST00000373225.7:c.*23_*43del	ENSP00000362322.3:n.*23_*43del
ENST00000373247.6:c.*23_*43del	ENSP00000362344.2:n.*23_*43del
ENST00000393706.6:c.*23_*43del	ENSP00000377309.2:n.*23_*43del
ENST00000460181.5:n.1775_1795del
ENST00000467826.5:n.709+304_709+324del
ENST00000630236.2:c.*511_*531del	ENSP00000486766.1:n.*511_*531del
NM_001018078.2:c.*23_*43del	NP_001018088.1:n.*23_*43del
NM_001288803.1:c.*23_*43del	NP_001275732.1:n.*23_*43del
NM_004957.5:c.*23_*43del	NP_004948.4:n.*23_*43del
NR_110170.1:n.1835_1855del
XM_005251864.2:c.1483+304_1483+324del	XP_005251921.1:n.1483+304_1483+324del
XM_011518437.1:c.*23_*43del	XP_011516739.1:n.*23_*43del
XM_011518438.1:c.*23_*43del	XP_011516740.1:n.*23_*43del
XM_011518439.1:c.*23_*43del	XP_011516741.1:n.*23_*43del
XR_242581.2:n.1684_1704del
XR_242582.2:n.1380+304_1380+324del
XM_005251864.4:c.1483+304_1483+324del	XP_005251921.1:n.1483+304_1483+324del
XM_011518439.2:c.*23_*43del	XP_011516741.1:n.*23_*43del
XM_017014565.2:c.1333+304_1333+324del	XP_016870054.1:n.1333+304_1333+324del
XM_017014566.1:c.*23_*43del	XP_016870055.1:n.*23_*43del
XR_242581.4:n.1682_1702del
XR_242582.4:n.1378+304_1378+324del
NM_004957.6:c.*23_*43del MANE Select	NP_004948.4:n.*23_*43del