Canonical Allele Identifier: CA2169210736

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34793512_34793513delinsTG , CM000677.2:g.34793512_34793513delinsTG	GRCh38
NC_000015.9:g.35085713_35085714delinsTG , CM000677.1:g.35085713_35085714delinsTG	GRCh37
NC_000015.8:g.32873005_32873006delinsTG	NCBI36
NG_007553.1:g.7214_7215delinsCA , LRG_388:g.7214_7215delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.292_293delinsCA (ACTC1)
ENST00000290378.6:c.186_187delinsCA (ACTC1) MANE Select	ENSP00000290378.4:p.Ser62=
ENST00000647798.1:n.333_334delinsCA (ACTC1)
ENST00000648556.1:n.343_344delinsCA (ACTC1)
ENST00000650163.1:n.266_267delinsCA (ACTC1)
ENST00000290378.4:c.186_187delinsCA (ACTC1)	ENSP00000290378.4:p.Ser62=
NM_005159.4:c.186_187delinsCA , LRG_388t1:c.186_187delinsCA (ACTC1)	NP_005150.1:p.Ser62=
NR_120329.1:n.299+16081_299+16082delinsTG (GJD2-DT)
NM_005159.5:c.186_187delinsCA (ACTC1) MANE Select	NP_005150.1:p.Ser62=