Canonical Allele Identifier: CA1104881
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs766784605
ExAC: 1:152280213 CACTG / C
gnomAD v2: 1-152280213-CACTG-C
gnomAD v3: 1-152307737-CACTG-C
gnomAD v4: 1-152307737-CACTG-C
MyVariant Identifiers: chr1:g.152280214_152280217del (hg19) chr1:g.152307738_152307741del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152307742_152307745del , CM000663.2:g.152307742_152307745del GRCh38
NC_000001.10:g.152280218_152280221del , CM000663.1:g.152280218_152280221del GRCh37
NC_000001.9:g.150546842_150546845del NCBI36
NG_016190.1:g.22463_22466del , LRG_1028:g.22463_22466del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.7145_7148del MANE Select ENSP00000357789.1:p.Ser2382CysfsTer?
ENST00000368799.1:c.7145_7148del ENSP00000357789.1:p.Ser2382CysfsTer?
NM_002016.1:c.7145_7148del , LRG_1028t1:c.7145_7148del NP_002007.1:p.Ser2382CysfsTer?
XM_011509329.1:c.7145_7148del XP_011507631.1:p.Ser2382CysfsTer?
NM_002016.2:c.7145_7148del MANE Select NP_002007.1:p.Ser2382CysfsTer?
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