Canonical Allele Identifier: CA1106707

Gene: FLG

Linked Data

• dbSNP Id: rs756005820
• ExAC: 1:152283974 CA / C
• gnomAD v2: 1-152283974-CA-C
• gnomAD v3: 1-152311498-CA-C
• gnomAD v4: 1-152311498-CA-C
• MyVariant Identifiers: chr1:g.152283975del (hg19) ; chr1:g.152311499del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152311499del , CM000663.2:g.152311499del	GRCh38
NC_000001.10:g.152283975del , CM000663.1:g.152283975del	GRCh37
NC_000001.9:g.150550599del	NCBI36
NG_016190.1:g.18705del , LRG_1028:g.18705del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368799.2:c.3387del MANE Select	ENSP00000357789.1:p.Ala1130ProfsTer?
ENST00000368799.1:c.3387del	ENSP00000357789.1:p.Ala1130ProfsTer?
NM_002016.1:c.3387del , LRG_1028t1:c.3387del	NP_002007.1:p.Ala1130ProfsTer?
XM_011509329.1:c.3387del	XP_011507631.1:p.Ala1130ProfsTer?
NM_002016.2:c.3387del MANE Select	NP_002007.1:p.Ala1130ProfsTer?