Canonical Allele Identifier: CA2575670180

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792004del , CM000677.2:g.34792004del	GRCh38
NC_000015.9:g.35084205del , CM000677.1:g.35084205del	GRCh37
NC_000015.8:g.32871497del	NCBI36
NG_007553.1:g.8725del , LRG_388:g.8725del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1002del (ACTC1)
ENST00000290378.6:c.808+88del (ACTC1) MANE Select	ENSP00000290378.4:n.808+88del
ENST00000647798.1:n.902+88del (ACTC1)
ENST00000650163.1:n.888+88del (ACTC1)
ENST00000290378.4:c.808+88del (ACTC1)	ENSP00000290378.4:n.808+88del
ENST00000557860.1:n.498+88del (ACTC1)
ENST00000560563.1:n.395del (ACTC1)
NM_005159.4:c.808+88del , LRG_388t1:c.808+88del (ACTC1)	NP_005150.1:n.808+88del
NR_120329.1:n.299+14573del (GJD2-DT)
NM_005159.5:c.808+88del (ACTC1) MANE Select	NP_005150.1:n.808+88del