Canonical Allele Identifier: CA2479951395

Gene: FLG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152311497_152311503delinsGCAGACT , CM000663.2:g.152311497_152311503delinsGCAGACT	GRCh38
NC_000001.10:g.152283973_152283979delinsGCAGACT , CM000663.1:g.152283973_152283979delinsGCAGACT	GRCh37
NC_000001.9:g.150550597_150550603delinsGCAGACT	NCBI36
NG_016190.1:g.18701_18707delinsAGTCTGC , LRG_1028:g.18701_18707delinsAGTCTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368799.2:c.3383_3389delinsAGTCTGC MANE Select	ENSP00000357789.1:p.Glu1128=
ENST00000368799.1:c.3383_3389delinsAGTCTGC	ENSP00000357789.1:p.Glu1128=
NM_002016.1:c.3383_3389delinsAGTCTGC , LRG_1028t1:c.3383_3389delinsAGTCTGC	NP_002007.1:p.Glu1128=
XM_011509329.1:c.3383_3389delinsAGTCTGC	XP_011507631.1:p.Glu1128=
NM_002016.2:c.3383_3389delinsAGTCTGC MANE Select	NP_002007.1:p.Glu1128=