Canonical Allele Identifier: CA2250418993

Gene: FLCN

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17219088_17219091delinsAGAG , CM000679.2:g.17219088_17219091delinsAGAG	GRCh38
NC_000017.10:g.17122402_17122405delinsAGAG , CM000679.1:g.17122402_17122405delinsAGAG	GRCh37
NC_000017.9:g.17063127_17063130delinsAGAG	NCBI36
NG_008001.2:g.23098_23101delinsCTCT , LRG_325:g.23098_23101delinsCTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285071.9:c.990_993delinsCTCT MANE Select	ENSP00000285071.4:p.Ser330=
ENST00000285071.8:c.990_993delinsCTCT	ENSP00000285071.4:p.Ser330=
ENST00000427497.3:c.149-37_149-34delinsCTCT	ENSP00000394249.3:n.149-37_149-34delinsCTCT
ENST00000577591.1:n.13_16delinsCTCT
NM_144997.5:c.990_993delinsCTCT , LRG_325t1:c.990_993delinsCTCT	NP_659434.2:p.Ser330=
XM_011523714.1:c.1044_1047delinsCTCT	XP_011522016.1:p.Ser348=
XM_011523715.1:c.1044_1047delinsCTCT	XP_011522017.1:p.Ser348=
XM_011523716.1:c.1044_1047delinsCTCT	XP_011522018.1:p.Ser348=
XM_011523717.1:c.1044_1047delinsCTCT	XP_011522019.1:p.Ser348=
XM_011523718.1:c.1044_1047delinsCTCT	XP_011522020.1:p.Ser348=
XM_011523719.1:c.1044_1047delinsCTCT	XP_011522021.1:p.Ser348=
XM_011523720.1:c.768_771delinsCTCT	XP_011522022.1:p.Ser256=
XM_011523721.1:c.1044_1047delinsCTCT	XP_011522023.1:p.Ser348=
XR_934007.1:n.2384_2387delinsCTCT
NM_001353229.1:c.1044_1047delinsCTCT	NP_001340158.1:p.Ser348=
NM_001353230.1:c.990_993delinsCTCT	NP_001340159.1:p.Ser330=
NM_001353231.1:c.990_993delinsCTCT	NP_001340160.1:p.Ser330=
NM_144997.6:c.990_993delinsCTCT	NP_659434.2:p.Ser330=
XM_011523714.3:c.1044_1047delinsCTCT	XP_011522016.1:p.Ser348=
XM_011523718.3:c.1044_1047delinsCTCT	XP_011522020.1:p.Ser348=
XM_011523719.3:c.1044_1047delinsCTCT	XP_011522021.1:p.Ser348=
XM_011523721.3:c.1044_1047delinsCTCT	XP_011522023.1:p.Ser348=
XM_017024305.2:c.1044_1047delinsCTCT	XP_016879794.1:p.Ser348=
XM_017024308.1:c.990_993delinsCTCT	XP_016879797.1:p.Ser330=
XM_017024309.2:c.768_771delinsCTCT	XP_016879798.1:p.Ser256=
XM_024450635.1:c.1044_1047delinsCTCT	XP_024306403.1:p.Ser348=
XR_001752445.2:n.1548_1551delinsCTCT
NM_144997.7:c.990_993delinsCTCT MANE Select	NP_659434.2:p.Ser330=
NM_001353229.2:c.1044_1047delinsCTCT	NP_001340158.1:p.Ser348=
NM_001353230.2:c.990_993delinsCTCT	NP_001340159.1:p.Ser330=
NM_001353231.2:c.990_993delinsCTCT	NP_001340160.1:p.Ser330=