Canonical Allele Identifier: CA2604860301

Gene: FOXL2

Linked Data

• gnomAD v3: 3-138945778-G-GGTAGTTGCCCTTCTCGAACATGTCTTCGCAGGCCGGGTCCAGCGTCCAGTAGTTGCCCTTGCGCTCGCCGCCGCCCTCGC
• gnomAD v4: 3-138945778-G-GGTAGTTGCCCTTCTCGAACATGTCTTCGCAGGCCGGGTCCAGCGTCCAGTAGTTGCCCTTGCGCTCGCCGCCGCCCTCGC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.138945779_138945780insTAGTTGCCCTTCTCGAACATGTCTTCGCAGGCCGGGTCCAGCGTCCAGTAGTTGCCCTTGCGCTCGCCGCCGCCCTCGCG , CM000665.2:g.138945779_138945780insTAGTTGCCCTTCTCGAACATGTCTTCGCAGGCCGGGTCCAGCGTCCAGTAGTTGCCCTTGCGCTCGCCGCCGCCCTCGCG	GRCh38
NC_000003.11:g.138664621_138664622insTAGTTGCCCTTCTCGAACATGTCTTCGCAGGCCGGGTCCAGCGTCCAGTAGTTGCCCTTGCGCTCGCCGCCGCCCTCGCG , CM000665.1:g.138664621_138664622insTAGTTGCCCTTCTCGAACATGTCTTCGCAGGCCGGGTCCAGCGTCCAGTAGTTGCCCTTGCGCTCGCCGCCGCCCTCGCG	GRCh37
NC_000003.10:g.140147311_140147312insTAGTTGCCCTTCTCGAACATGTCTTCGCAGGCCGGGTCCAGCGTCCAGTAGTTGCCCTTGCGCTCGCCGCCGCCCTCGCG	NCBI36
NG_012454.1:g.6362_6363insGCGAGGGCGGCGGCGAGCGCAAGGGCAACTACTGGACGCTGGACCCGGCCTGCGAAGACATGTTCGAGAAGGGCAACTAC
NG_029796.1:g.3546_3547insTAGTTGCCCTTCTCGAACATGTCTTCGCAGGCCGGGTCCAGCGTCCAGTAGTTGCCCTTGCGCTCGCCGCCGCCCTCGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648323.1:c.944_945insGCGAGGGCGGCGGCGAGCGCAAGGGCAACTACTGGACGCTGGACCCGGCCTGCGAAGACATGTTCGAGAAGGGCAACTAC MANE Select	ENSP00000497217.1:p.Ala316ArgfsTer?
ENST00000330315.3:c.944_945insGCGAGGGCGGCGGCGAGCGCAAGGGCAACTACTGGACGCTGGACCCGGCCTGCGAAGACATGTTCGAGAAGGGCAACTAC	ENSP00000333188.3:p.Ala316ArgfsTer?
NM_023067.3:c.944_945insGCGAGGGCGGCGGCGAGCGCAAGGGCAACTACTGGACGCTGGACCCGGCCTGCGAAGACATGTTCGAGAAGGGCAACTAC	NP_075555.1:p.Ala316ArgfsTer?
NM_023067.4:c.944_945insGCGAGGGCGGCGGCGAGCGCAAGGGCAACTACTGGACGCTGGACCCGGCCTGCGAAGACATGTTCGAGAAGGGCAACTAC MANE Select	NP_075555.1:p.Ala316ArgfsTer?