Canonical Allele Identifier: CA2650926714

Gene: ACTA1

Linked Data

• gnomAD v4: 1-229432484-T-TCAGCGCTAGGGGCGAGGCCGAGGCTAGGCG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229432485_229432486insAGCGCTAGGGGCGAGGCCGAGGCTAGGCGC , CM000663.2:g.229432485_229432486insAGCGCTAGGGGCGAGGCCGAGGCTAGGCGC	GRCh38
NC_000001.10:g.229568232_229568233insAGCGCTAGGGGCGAGGCCGAGGCTAGGCGC , CM000663.1:g.229568232_229568233insAGCGCTAGGGGCGAGGCCGAGGCTAGGCGC	GRCh37
NC_000001.9:g.227634855_227634856insAGCGCTAGGGGCGAGGCCGAGGCTAGGCGC	NCBI36
NG_006672.1:g.6612_6613insCGCCTAGCCTCGGCCTCGCCCCTAGCGCTG , LRG_429:g.6612_6613insCGCCTAGCCTCGGCCTCGCCCCTAGCGCTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000366683.4:c.455-54_455-53insCGCCTAGCCTCGGCCTCGCCCCTAGCGCTG	ENSP00000355644.4:n.455-54_455-53insCGCCTAGCCTCGGCCTCGCCCCTAG...
ENST00000684723.1:c.320-54_320-53insCGCCTAGCCTCGGCCTCGCCCCTAGCGCTG	ENSP00000508084.1:n.320-54_320-53insCGCCTAGCCTCGGCCTCGCCCCTAG...
ENST00000366683.3:c.455-54_455-53insCGCCTAGCCTCGGCCTCGCCCCTAGCGCTG	ENSP00000355644.3:n.455-54_455-53insCGCCTAGCCTCGGCCTCGCCCCTAG...
ENST00000366684.7:c.455-54_455-53insCGCCTAGCCTCGGCCTCGCCCCTAGCGCTG MANE Select	ENSP00000355645.3:n.455-54_455-53insCGCCTAGCCTCGGCCTCGCCCCTAG...
NM_001100.3:c.455-54_455-53insCGCCTAGCCTCGGCCTCGCCCCTAGCGCTG , LRG_429t1:c.455-54_455-53insCGCCTAGCCTCGGCCTCGCCCCTAGCGCTG	NP_001091.1:n.455-54_455-53insCGCCTAGCCTCGGCCTCGCCCCTAGCGCTG
NM_001100.4:c.455-54_455-53insCGCCTAGCCTCGGCCTCGCCCCTAGCGCTG MANE Select	NP_001091.1:n.455-54_455-53insCGCCTAGCCTCGGCCTCGCCCCTAGCGCTG