Canonical Allele Identifier: CA613804059

Gene: CFL2

Linked Data

• dbSNP Id: rs1424940407
• gnomAD v2: 14-35182626-CAATT-C
• gnomAD v4: 14-34713420-CAATT-C
• MyVariant Identifiers: chr14:g.35182627_35182630del (hg19) ; chr14:g.34713421_34713424del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.34713422_34713425del , CM000676.2:g.34713422_34713425del	GRCh38
NC_000014.8:g.35182628_35182631del , CM000676.1:g.35182628_35182631del	GRCh37
NC_000014.7:g.34252379_34252382del	NCBI36
NG_012740.1:g.6400_6403del , LRG_213:g.6400_6403del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298159.11:c.141_144del MANE Select	ENSP00000298159.6:p.Ile47MetfsTer2
ENST00000341223.8:c.141_144del	ENSP00000340635.3:p.Ile47MetfsTer2
ENST00000672163.1:c.141_144del	ENSP00000500375.1:p.Ile47MetfsTer2
ENST00000672517.1:c.141_144del	ENSP00000500532.1:p.Ile47MetfsTer2
ENST00000673315.1:c.90_93del	ENSP00000500002.1:p.Ile30MetfsTer2
ENST00000298159.10:c.141_144del	ENSP00000298159.6:p.Ile47MetfsTer2
ENST00000341223.7:c.141_144del	ENSP00000340635.3:p.Ile47MetfsTer2
ENST00000422678.2:c.141_144del	ENSP00000409326.2:p.Ile47MetfsTer2
ENST00000554470.5:c.57+84_57+87del	ENSP00000450862.1:n.57+84_57+87del
ENST00000555765.5:c.90_93del	ENSP00000452451.1:p.Ile30MetfsTer2
ENST00000556161.1:c.90_93del	ENSP00000452188.1:p.Ile30MetfsTer2
NM_001243645.1:c.90_93del	NP_001230574.1:p.Ile30MetfsTer2
NM_021914.7:c.141_144del	NP_068733.1:p.Ile47MetfsTer2
NM_138638.4:c.141_144del , LRG_213t1:c.141_144del	NP_619579.1:p.Ile47MetfsTer2
NR_028130.1:n.424_427del
NR_028131.1:n.340+84_340+87del
XM_011536363.1:c.90_93del	XP_011534665.1:p.Ile30MetfsTer2
XM_011536363.3:c.90_93del	XP_011534665.1:p.Ile30MetfsTer2
NM_138638.5:c.141_144del MANE Select	NP_619579.1:p.Ile47MetfsTer2
NM_001243645.2:c.90_93del	NP_001230574.1:p.Ile30MetfsTer2
NM_021914.8:c.141_144del	NP_068733.1:p.Ile47MetfsTer2
NR_028130.2:n.194_197del
NR_028131.2:n.110+84_110+87del