Canonical Allele Identifier: CA1103493
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs778288953
ExAC: 1:152277180 T / TCAGAC
gnomAD v2: 1-152277180-T-TCAGAC
gnomAD v4: 1-152304704-T-TCAGAC
MyVariant Identifiers: chr1:g.152277180_152277181insCAGAC (hg19) chr1:g.152304704_152304705insCAGAC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152304704_152304705insCAGAC , CM000663.2:g.152304704_152304705insCAGAC GRCh38
NC_000001.10:g.152277180_152277181insCAGAC , CM000663.1:g.152277180_152277181insCAGAC GRCh37
NC_000001.9:g.150543804_150543805insCAGAC NCBI36
NG_016190.1:g.25499_25500insGTCTG , LRG_1028:g.25499_25500insGTCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.10181_10182insGTCTG MANE Select ENSP00000357789.1:p.Gln3395SerfsTer?
ENST00000368799.1:c.10181_10182insGTCTG ENSP00000357789.1:p.Gln3395SerfsTer?
NM_002016.1:c.10181_10182insGTCTG , LRG_1028t1:c.10181_10182insGTCTG NP_002007.1:p.Gln3395SerfsTer?
XM_011509329.1:c.9109-872_9109-871insGTCTG XP_011507631.1:n.9109-872_9109-871insGTCTG
NM_002016.2:c.10181_10182insGTCTG MANE Select NP_002007.1:p.Gln3395SerfsTer?
Search 100 bp 5'
Search 100 bp 3'