Canonical Allele Identifier: CA2746124214
Gene: FLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152309149_152309156del , CM000663.2:g.152309149_152309156del GRCh38
NC_000001.10:g.152281625_152281632del , CM000663.1:g.152281625_152281632del GRCh37
NC_000001.9:g.150548249_150548256del NCBI36
NG_016190.1:g.21049_21056del , LRG_1028:g.21049_21056del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.5731_5738del MANE Select ENSP00000357789.1:p.Ser1911ProfsTer6
ENST00000368799.1:c.5731_5738del ENSP00000357789.1:p.Ser1911ProfsTer6
NM_002016.1:c.5731_5738del , LRG_1028t1:c.5731_5738del NP_002007.1:p.Ser1911ProfsTer6
XM_011509329.1:c.5731_5738del XP_011507631.1:p.Ser1911ProfsTer6
NM_002016.2:c.5731_5738del MANE Select NP_002007.1:p.Ser1911ProfsTer6