Canonical Allele Identifier: CA2691804023

Gene: FPGS

Linked Data

• gnomAD v4: 9-127813772-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813775_127813776del , CM000671.2:g.127813775_127813776del	GRCh38
NC_000009.11:g.130576054_130576055del , CM000671.1:g.130576054_130576055del	GRCh37
NC_000009.10:g.129615875_129615876del	NCBI36
NG_009551.1:g.45995_45996del , LRG_589:g.45995_45996del
NG_023245.1:g.15901_15902del

Transcript Alleles

HGVS	Amino-acid change
ENST00000373247.7:c.*171_*172del MANE Select	ENSP00000362344.2:n.*171_*172del
ENST00000373225.7:c.*171_*172del	ENSP00000362322.3:n.*171_*172del
ENST00000373247.6:c.*171_*172del	ENSP00000362344.2:n.*171_*172del
ENST00000393706.6:c.*171_*172del	ENSP00000377309.2:n.*171_*172del
ENST00000460181.5:n.1923_1924del
ENST00000467826.5:n.710-433_710-432del
ENST00000630236.2:c.*659_*660del	ENSP00000486766.1:n.*659_*660del
NM_001018078.2:c.*171_*172del	NP_001018088.1:n.*171_*172del
NM_001288803.1:c.*171_*172del	NP_001275732.1:n.*171_*172del
NM_004957.5:c.*171_*172del	NP_004948.4:n.*171_*172del
NR_110170.1:n.1983_1984del
XM_005251864.2:c.1484-433_1484-432del	XP_005251921.1:n.1484-433_1484-432del
XM_011518437.1:c.*171_*172del	XP_011516739.1:n.*171_*172del
XM_011518438.1:c.*171_*172del	XP_011516740.1:n.*171_*172del
XM_011518439.1:c.*171_*172del	XP_011516741.1:n.*171_*172del
XR_242581.2:n.1832_1833del
XR_242582.2:n.1381-433_1381-432del
XM_005251864.4:c.1484-433_1484-432del	XP_005251921.1:n.1484-433_1484-432del
XM_011518439.2:c.*171_*172del	XP_011516741.1:n.*171_*172del
XM_017014565.2:c.1334-433_1334-432del	XP_016870054.1:n.1334-433_1334-432del
XM_017014566.1:c.*171_*172del	XP_016870055.1:n.*171_*172del
XR_242581.4:n.1830_1831del
XR_242582.4:n.1379-433_1379-432del
NM_004957.6:c.*171_*172del MANE Select	NP_004948.4:n.*171_*172del