Canonical Allele Identifier: CA019683
Gene: ACTC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18328
ClinVar RCV Id: RCV000019993
dbSNP Id: rs387906585

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34793473_34793489del , CM000677.2:g.34793473_34793489del GRCh38
NC_000015.9:g.35085674_35085690del , CM000677.1:g.35085674_35085690del GRCh37
NC_000015.8:g.32872966_32872982del NCBI36
NG_007553.1:g.7243_7259del , LRG_388:g.7243_7259del

Transcript Alleles

HGVS Amino-acid change
ENST00000290378.6:c.215_231del MANE Select ENSP00000290378.4:p.Pro72HisfsTer18
ENST00000647798.1:n.362_378del
ENST00000648556.1:n.372_388del
ENST00000650163.1:n.295_311del
ENST00000290378.4:c.215_231del ENSP00000290378.4:p.Pro72HisfsTer18
NM_005159.4:c.215_231del , LRG_388t1:c.215_231del NP_005150.1:p.Pro72HisfsTer18
NR_120329.1:n.299+16042_299+16058del
NM_005159.5:c.215_231del MANE Select NP_005150.1:p.Pro72HisfsTer18