Canonical Allele Identifier: CA7152289

Gene: CFL2

Linked Data

• ClinVar Variation Id: 313096
• ClinVar RCV Id: RCV000404309 ; RCV000607301 ; RCV001701951 ; RCV001517043
• dbSNP Id: rs35515423
• ExAC: 14:35182348 GA / G
• gnomAD v2: 14-35182348-GA-G
• gnomAD v3: 14-34713142-GA-G
• gnomAD v4: 14-34713142-GA-G
• COSMIC: COSM1607639 ; COSM5498132
• MyVariant Identifiers: chr14:g.35182350del (hg19) ; chr14:g.35182349del (hg19) ; chr14:g.34713144del (hg38) ; chr14:g.34713143del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.34713154del , CM000676.2:g.34713154del	GRCh38
NC_000014.8:g.35182360del , CM000676.1:g.35182360del	GRCh37
NC_000014.7:g.34252111del	NCBI36
NG_012740.1:g.6681del , LRG_213:g.6681del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298159.11:c.312-7del MANE Select	ENSP00000298159.6:n.312-7del
ENST00000341223.8:c.312-7del	ENSP00000340635.3:n.312-7del
ENST00000672163.1:c.312-7del	ENSP00000500375.1:n.312-7del
ENST00000672517.1:c.312-7del	ENSP00000500532.1:n.312-7del
ENST00000673315.1:c.261-7del	ENSP00000500002.1:n.261-7del
ENST00000298159.10:c.312-7del	ENSP00000298159.6:n.312-7del
ENST00000341223.7:c.312-7del	ENSP00000340635.3:n.312-7del
ENST00000422678.2:c.169-7del	ENSP00000409326.2:n.169-7del
ENST00000554470.5:c.58-7del	ENSP00000450862.1:n.58-7del
ENST00000555765.5:c.261-7del	ENSP00000452451.1:n.261-7del
ENST00000556161.1:c.261-7del	ENSP00000452188.1:n.261-7del
NM_001243645.1:c.261-7del	NP_001230574.1:n.261-7del
NM_021914.7:c.312-7del	NP_068733.1:n.312-7del
NM_138638.4:c.312-7del , LRG_213t1:c.312-7del	NP_619579.1:n.312-7del
NR_028130.1:n.452-7del
NR_028131.1:n.341-7del
XM_011536363.1:c.261-7del	XP_011534665.1:n.261-7del
XM_011536363.3:c.261-7del	XP_011534665.1:n.261-7del
NM_138638.5:c.312-7del MANE Select	NP_619579.1:n.312-7del
NM_001243645.2:c.261-7del	NP_001230574.1:n.261-7del
NM_021914.8:c.312-7del	NP_068733.1:n.312-7del
NR_028130.2:n.222-7del
NR_028131.2:n.111-7del