Canonical Allele Identifier: CA1007765919

Gene: FLG

Linked Data

• dbSNP Id: rs1652343052
• gnomAD v3: 1-152310678-TCTGAATGTCC-T
• gnomAD v4: 1-152310678-TCTGAATGTCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152310681_152310690del , CM000663.2:g.152310681_152310690del	GRCh38
NC_000001.10:g.152283157_152283166del , CM000663.1:g.152283157_152283166del	GRCh37
NC_000001.9:g.150549781_150549790del	NCBI36
NG_016190.1:g.19516_19525del , LRG_1028:g.19516_19525del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368799.2:c.4198_4207del MANE Select	ENSP00000357789.1:p.Gly1400LysfsTer?
ENST00000368799.1:c.4198_4207del	ENSP00000357789.1:p.Gly1400LysfsTer?
NM_002016.1:c.4198_4207del , LRG_1028t1:c.4198_4207del	NP_002007.1:p.Gly1400LysfsTer?
XM_011509329.1:c.4198_4207del	XP_011507631.1:p.Gly1400LysfsTer?
NM_002016.2:c.4198_4207del MANE Select	NP_002007.1:p.Gly1400LysfsTer?