Canonical Allele Identifier: CA2837589104
Gene: FOXC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1610744_1610767del , CM000668.2:g.1610744_1610767del GRCh38
NC_000006.11:g.1610979_1611002del , CM000668.1:g.1610979_1611002del GRCh37
NC_000006.10:g.1555978_1556001del NCBI36
NG_009368.1:g.5299_5322del

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.299_322del MANE Select ENSP00000493906.1:p.Thr100_Phe107del
ENST00000380874.3:c.299_322del ENSP00000370256.2:p.Thr100_Phe107del
NM_001453.2:c.299_322del NP_001444.2:p.Thr100_Phe107del
NM_001453.3:c.299_322del MANE Select NP_001444.2:p.Thr100_Phe107del