Canonical Allele Identifier: CA2691803882

Gene: FPGS

Linked Data

• gnomAD v4: 9-127813594-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813595del , CM000671.2:g.127813595del	GRCh38
NC_000009.11:g.130575874del , CM000671.1:g.130575874del	GRCh37
NC_000009.10:g.129615695del	NCBI36
NG_009551.1:g.46174del , LRG_589:g.46174del
NG_023245.1:g.15721del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1755del MANE Select	ENSP00000362344.2:p.Ser586ProfsTer26
ENST00000373225.7:c.1605del	ENSP00000362322.3:p.Ser536ProfsTer26
ENST00000373247.6:c.1755del	ENSP00000362344.2:p.Ser586ProfsTer26
ENST00000393706.6:c.1677del	ENSP00000377309.2:p.Ser560ProfsTer26
ENST00000460181.5:n.1743del
ENST00000467826.5:n.709+272del
ENST00000630236.2:c.*479del	ENSP00000486766.1:n.*479del
NM_001018078.2:c.1605del	NP_001018088.1:p.Ser536ProfsTer26
NM_001288803.1:c.1677del	NP_001275732.1:p.Ser560ProfsTer26
NM_004957.5:c.1755del	NP_004948.4:p.Ser586ProfsTer26
NR_110170.1:n.1803del
XM_005251864.2:c.1483+272del	XP_005251921.1:n.1483+272del
XM_011518437.1:c.1605del	XP_011516739.1:p.Ser536ProfsTer26
XM_011518438.1:c.1605del	XP_011516740.1:p.Ser536ProfsTer26
XM_011518439.1:c.912del	XP_011516741.1:p.Ser305ProfsTer26
XR_242581.2:n.1652del
XR_242582.2:n.1380+272del
XM_005251864.4:c.1483+272del	XP_005251921.1:n.1483+272del
XM_011518439.2:c.912del	XP_011516741.1:p.Ser305ProfsTer26
XM_017014565.2:c.1333+272del	XP_016870054.1:n.1333+272del
XM_017014566.1:c.912del	XP_016870055.1:p.Ser305ProfsTer26
XR_242581.4:n.1650del
XR_242582.4:n.1378+272del
NM_004957.6:c.1755del MANE Select	NP_004948.4:p.Ser586ProfsTer26