Canonical Allele Identifier: CA2479950131
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs1652208811

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152309186_152309189del , CM000663.2:g.152309186_152309189del GRCh38
NC_000001.10:g.152281662_152281665del , CM000663.1:g.152281662_152281665del GRCh37
NC_000001.9:g.150548286_150548289del NCBI36
NG_016190.1:g.21017_21020del , LRG_1028:g.21017_21020del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.5699_5702del MANE Select ENSP00000357789.1:p.Val1900AlafsTer?
ENST00000368799.1:c.5699_5702del ENSP00000357789.1:p.Val1900AlafsTer?
NM_002016.1:c.5699_5702del , LRG_1028t1:c.5699_5702del NP_002007.1:p.Val1900AlafsTer?
XM_011509329.1:c.5699_5702del XP_011507631.1:p.Val1900AlafsTer?
NM_002016.2:c.5699_5702del MANE Select NP_002007.1:p.Val1900AlafsTer?