Canonical Allele Identifier: CA2691804158

Gene: FPGS

Linked Data

• gnomAD v4: 9-127813864-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813869del , CM000671.2:g.127813869del	GRCh38
NC_000009.11:g.130576148del , CM000671.1:g.130576148del	GRCh37
NC_000009.10:g.129615969del	NCBI36
NG_009551.1:g.45904del , LRG_589:g.45904del
NG_023245.1:g.15995del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.*265del MANE Select	ENSP00000362344.2:n.*265del
ENST00000373225.7:c.*265del	ENSP00000362322.3:n.*265del
ENST00000373247.6:c.*265del	ENSP00000362344.2:n.*265del
ENST00000393706.6:c.*265del	ENSP00000377309.2:n.*265del
ENST00000460181.5:n.2017del
ENST00000467826.5:n.710-339del
ENST00000630236.2:c.*753del	ENSP00000486766.1:n.*753del
NM_001018078.2:c.*265del	NP_001018088.1:n.*265del
NM_001288803.1:c.*265del	NP_001275732.1:n.*265del
NM_004957.5:c.*265del	NP_004948.4:n.*265del
NR_110170.1:n.2077del
XM_005251864.2:c.1484-339del	XP_005251921.1:n.1484-339del
XM_011518437.1:c.*265del	XP_011516739.1:n.*265del
XM_011518438.1:c.*265del	XP_011516740.1:n.*265del
XM_011518439.1:c.*265del	XP_011516741.1:n.*265del
XR_242581.2:n.1926del
XR_242582.2:n.1381-339del
XM_005251864.4:c.1484-339del	XP_005251921.1:n.1484-339del
XM_011518439.2:c.*265del	XP_011516741.1:n.*265del
XM_017014565.2:c.1334-339del	XP_016870054.1:n.1334-339del
XM_017014566.1:c.*265del	XP_016870055.1:n.*265del
XR_242581.4:n.1924del
XR_242582.4:n.1379-339del
NM_004957.6:c.*265del MANE Select	NP_004948.4:n.*265del