Canonical Allele Identifier: CA2691803925

Gene: FPGS

Linked Data

• gnomAD v4: 9-127813664-TTACA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813668_127813671del , CM000671.2:g.127813668_127813671del	GRCh38
NC_000009.11:g.130575947_130575950del , CM000671.1:g.130575947_130575950del	GRCh37
NC_000009.10:g.129615768_129615771del	NCBI36
NG_009551.1:g.46101_46104del , LRG_589:g.46101_46104del
NG_023245.1:g.15794_15797del

Transcript Alleles

HGVS	Amino-acid change
ENST00000373247.7:c.*64_*67del MANE Select	ENSP00000362344.2:n.*64_*67del
ENST00000373225.7:c.*64_*67del	ENSP00000362322.3:n.*64_*67del
ENST00000373247.6:c.*64_*67del	ENSP00000362344.2:n.*64_*67del
ENST00000393706.6:c.*64_*67del	ENSP00000377309.2:n.*64_*67del
ENST00000460181.5:n.1816_1819del
ENST00000467826.5:n.709+345_709+348del
ENST00000630236.2:c.*552_*555del	ENSP00000486766.1:n.*552_*555del
NM_001018078.2:c.*64_*67del	NP_001018088.1:n.*64_*67del
NM_001288803.1:c.*64_*67del	NP_001275732.1:n.*64_*67del
NM_004957.5:c.*64_*67del	NP_004948.4:n.*64_*67del
NR_110170.1:n.1876_1879del
XM_005251864.2:c.1483+345_1483+348del	XP_005251921.1:n.1483+345_1483+348del
XM_011518437.1:c.*64_*67del	XP_011516739.1:n.*64_*67del
XM_011518438.1:c.*64_*67del	XP_011516740.1:n.*64_*67del
XM_011518439.1:c.*64_*67del	XP_011516741.1:n.*64_*67del
XR_242581.2:n.1725_1728del
XR_242582.2:n.1380+345_1380+348del
XM_005251864.4:c.1483+345_1483+348del	XP_005251921.1:n.1483+345_1483+348del
XM_011518439.2:c.*64_*67del	XP_011516741.1:n.*64_*67del
XM_017014565.2:c.1333+345_1333+348del	XP_016870054.1:n.1333+345_1333+348del
XM_017014566.1:c.*64_*67del	XP_016870055.1:n.*64_*67del
XR_242581.4:n.1723_1726del
XR_242582.4:n.1378+345_1378+348del
NM_004957.6:c.*64_*67del MANE Select	NP_004948.4:n.*64_*67del