Canonical Allele Identifier: CA2691803965

Gene: FPGS

Linked Data

• gnomAD v4: 9-127813717-CTAGGGGCCAGGGCTTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813718_127813733del , CM000671.2:g.127813718_127813733del	GRCh38
NC_000009.11:g.130575997_130576012del , CM000671.1:g.130575997_130576012del	GRCh37
NC_000009.10:g.129615818_129615833del	NCBI36
NG_009551.1:g.46036_46051del , LRG_589:g.46036_46051del
NG_023245.1:g.15844_15859del

Transcript Alleles

HGVS	Amino-acid change
ENST00000373247.7:c.*114_*129del MANE Select	ENSP00000362344.2:n.*114_*129del
ENST00000373225.7:c.*114_*129del	ENSP00000362322.3:n.*114_*129del
ENST00000373247.6:c.*114_*129del	ENSP00000362344.2:n.*114_*129del
ENST00000393706.6:c.*114_*129del	ENSP00000377309.2:n.*114_*129del
ENST00000460181.5:n.1866_1881del
ENST00000467826.5:n.709+395_709+410del
ENST00000630236.2:c.*602_*617del	ENSP00000486766.1:n.*602_*617del
NM_001018078.2:c.*114_*129del	NP_001018088.1:n.*114_*129del
NM_001288803.1:c.*114_*129del	NP_001275732.1:n.*114_*129del
NM_004957.5:c.*114_*129del	NP_004948.4:n.*114_*129del
NR_110170.1:n.1926_1941del
XM_005251864.2:c.1483+395_1483+410del	XP_005251921.1:n.1483+395_1483+410del
XM_011518437.1:c.*114_*129del	XP_011516739.1:n.*114_*129del
XM_011518438.1:c.*114_*129del	XP_011516740.1:n.*114_*129del
XM_011518439.1:c.*114_*129del	XP_011516741.1:n.*114_*129del
XR_242581.2:n.1775_1790del
XR_242582.2:n.1380+395_1380+410del
XM_005251864.4:c.1483+395_1483+410del	XP_005251921.1:n.1483+395_1483+410del
XM_011518439.2:c.*114_*129del	XP_011516741.1:n.*114_*129del
XM_017014565.2:c.1333+395_1333+410del	XP_016870054.1:n.1333+395_1333+410del
XM_017014566.1:c.*114_*129del	XP_016870055.1:n.*114_*129del
XR_242581.4:n.1773_1788del
XR_242582.4:n.1378+395_1378+410del
NM_004957.6:c.*114_*129del MANE Select	NP_004948.4:n.*114_*129del