Canonical Allele Identifier: CA2169210585

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34793445_34793447delinsTCC , CM000677.2:g.34793445_34793447delinsTCC	GRCh38
NC_000015.9:g.35085646_35085648delinsTCC , CM000677.1:g.35085646_35085648delinsTCC	GRCh37
NC_000015.8:g.32872938_32872940delinsTCC	NCBI36
NG_007553.1:g.7280_7282delinsGGA , LRG_388:g.7280_7282delinsGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.358_360delinsGGA (ACTC1)
ENST00000290378.6:c.252_254delinsGGA (ACTC1) MANE Select	ENSP00000290378.4:p.Met84=
ENST00000647798.1:n.399_401delinsGGA (ACTC1)
ENST00000648556.1:n.409_411delinsGGA (ACTC1)
ENST00000650163.1:n.332_334delinsGGA (ACTC1)
ENST00000290378.4:c.252_254delinsGGA (ACTC1)	ENSP00000290378.4:p.Met84=
NM_005159.4:c.252_254delinsGGA , LRG_388t1:c.252_254delinsGGA (ACTC1)	NP_005150.1:p.Met84=
NR_120329.1:n.299+16014_299+16016delinsTCC (GJD2-DT)
NM_005159.5:c.252_254delinsGGA (ACTC1) MANE Select	NP_005150.1:p.Met84=