Canonical Allele Identifier: CA2746124219
Gene: FLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152309183_152309186del , CM000663.2:g.152309183_152309186del GRCh38
NC_000001.10:g.152281659_152281662del , CM000663.1:g.152281659_152281662del GRCh37
NC_000001.9:g.150548283_150548286del NCBI36
NG_016190.1:g.21018_21021del , LRG_1028:g.21018_21021del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.5700_5703del MANE Select ENSP00000357789.1:p.Gly1901ArgfsTer?
ENST00000368799.1:c.5700_5703del ENSP00000357789.1:p.Gly1901ArgfsTer?
NM_002016.1:c.5700_5703del , LRG_1028t1:c.5700_5703del NP_002007.1:p.Gly1901ArgfsTer?
XM_011509329.1:c.5700_5703del XP_011507631.1:p.Gly1901ArgfsTer?
NM_002016.2:c.5700_5703del MANE Select NP_002007.1:p.Gly1901ArgfsTer?