Canonical Allele Identifier: CA2647993563

Gene: FLG

Linked Data

• gnomAD v4: 1-152310591-CCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152310596_152310682del , CM000663.2:g.152310596_152310682del	GRCh38
NC_000001.10:g.152283072_152283158del , CM000663.1:g.152283072_152283158del	GRCh37
NC_000001.9:g.150549696_150549782del	NCBI36
NG_016190.1:g.19526_19612del , LRG_1028:g.19526_19612del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368799.2:c.4208_4294del MANE Select	ENSP00000357789.1:p.Glu1403_Ser1431del
ENST00000368799.1:c.4208_4294del	ENSP00000357789.1:p.Glu1403_Ser1431del
NM_002016.1:c.4208_4294del , LRG_1028t1:c.4208_4294del	NP_002007.1:p.Glu1403_Ser1431del
XM_011509329.1:c.4208_4294del	XP_011507631.1:p.Glu1403_Ser1431del
NM_002016.2:c.4208_4294del MANE Select	NP_002007.1:p.Glu1403_Ser1431del