Canonical Allele Identifier: CA2647993657
Gene: FLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152311441_152311450del , CM000663.2:g.152311441_152311450del GRCh38
NC_000001.10:g.152283917_152283926del , CM000663.1:g.152283917_152283926del GRCh37
NC_000001.9:g.150550541_150550550del NCBI36
NG_016190.1:g.18760_18769del , LRG_1028:g.18760_18769del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.3442_3451del MANE Select ENSP00000357789.1:p.Gln1148ThrfsTer?
ENST00000368799.1:c.3442_3451del ENSP00000357789.1:p.Gln1148ThrfsTer?
NM_002016.1:c.3442_3451del , LRG_1028t1:c.3442_3451del NP_002007.1:p.Gln1148ThrfsTer?
XM_011509329.1:c.3442_3451del XP_011507631.1:p.Gln1148ThrfsTer?
NM_002016.2:c.3442_3451del MANE Select NP_002007.1:p.Gln1148ThrfsTer?