Canonical Allele Identifier: CA2479949259
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs1652072255
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152307662_152307663insAGAGGGTCAG , CM000663.2:g.152307662_152307663insAGAGGGTCAG GRCh38
NC_000001.10:g.152280138_152280139insAGAGGGTCAG , CM000663.1:g.152280138_152280139insAGAGGGTCAG GRCh37
NC_000001.9:g.150546762_150546763insAGAGGGTCAG NCBI36
NG_016190.1:g.22541_22542insCTGACCCTCT , LRG_1028:g.22541_22542insCTGACCCTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.7223_7224insCTGACCCTCT MANE Select ENSP00000357789.1:p.Gly2409Ter
ENST00000368799.1:c.7223_7224insCTGACCCTCT ENSP00000357789.1:p.Gly2409Ter
NM_002016.1:c.7223_7224insCTGACCCTCT , LRG_1028t1:c.7223_7224insCTGACCCTCT NP_002007.1:p.Gly2409Ter
XM_011509329.1:c.7223_7224insCTGACCCTCT XP_011507631.1:p.Gly2409Ter
NM_002016.2:c.7223_7224insCTGACCCTCT MANE Select NP_002007.1:p.Gly2409Ter
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