Canonical Allele Identifier: CA2169210570

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34793439_34793441delinsATC , CM000677.2:g.34793439_34793441delinsATC	GRCh38
NC_000015.9:g.35085640_35085642delinsATC , CM000677.1:g.35085640_35085642delinsATC	GRCh37
NC_000015.8:g.32872932_32872934delinsATC	NCBI36
NG_007553.1:g.7286_7288delinsGAT , LRG_388:g.7286_7288delinsGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.364_366delinsGAT (ACTC1)
ENST00000290378.6:c.258_260delinsGAT (ACTC1) MANE Select	ENSP00000290378.4:p.Lys86=
ENST00000647798.1:n.405_407delinsGAT (ACTC1)
ENST00000648556.1:n.415_417delinsGAT (ACTC1)
ENST00000650163.1:n.338_340delinsGAT (ACTC1)
ENST00000290378.4:c.258_260delinsGAT (ACTC1)	ENSP00000290378.4:p.Lys86=
NM_005159.4:c.258_260delinsGAT , LRG_388t1:c.258_260delinsGAT (ACTC1)	NP_005150.1:p.Lys86=
NR_120329.1:n.299+16008_299+16010delinsATC (GJD2-DT)
NM_005159.5:c.258_260delinsGAT (ACTC1) MANE Select	NP_005150.1:p.Lys86=