Canonical Allele Identifier: CA2536470120

Gene: FLG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152310521_152310522insCCCA , CM000663.2:g.152310521_152310522insCCCA	GRCh38
NC_000001.10:g.152282997_152282998insCCCA , CM000663.1:g.152282997_152282998insCCCA	GRCh37
NC_000001.9:g.150549621_150549622insCCCA	NCBI36
NG_016190.1:g.19682_19683insTGGG , LRG_1028:g.19682_19683insTGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368799.2:c.4364_4365insTGGG MANE Select	ENSP00000357789.1:p.Gln1457ArgfsTer16
ENST00000368799.1:c.4364_4365insTGGG	ENSP00000357789.1:p.Gln1457ArgfsTer16
NM_002016.1:c.4364_4365insTGGG , LRG_1028t1:c.4364_4365insTGGG	NP_002007.1:p.Gln1457ArgfsTer16
XM_011509329.1:c.4364_4365insTGGG	XP_011507631.1:p.Gln1457ArgfsTer16
NM_002016.2:c.4364_4365insTGGG MANE Select	NP_002007.1:p.Gln1457ArgfsTer16