Canonical Allele Identifier: CA2741420060

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792249del , CM000677.2:g.34792249del	GRCh38
NC_000015.9:g.35084450del , CM000677.1:g.35084450del	GRCh37
NC_000015.8:g.32871742del	NCBI36
NG_007553.1:g.8479del , LRG_388:g.8479del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.756del (ACTC1)
ENST00000290378.6:c.650del (ACTC1) MANE Select	ENSP00000290378.4:p.Lys217SerfsTer?
ENST00000647798.1:n.744del (ACTC1)
ENST00000650163.1:n.730del (ACTC1)
ENST00000290378.4:c.650del (ACTC1)	ENSP00000290378.4:p.Lys217SerfsTer?
ENST00000557860.1:n.340del (ACTC1)
ENST00000560563.1:n.149del (ACTC1)
NM_005159.4:c.650del , LRG_388t1:c.650del (ACTC1)	NP_005150.1:p.Lys217SerfsTer?
NR_120329.1:n.299+14818del (GJD2-DT)
NM_005159.5:c.650del (ACTC1) MANE Select	NP_005150.1:p.Lys217SerfsTer?