Canonical Allele Identifier: CA2169210577

Gene: ACTC1 GJD2-DT

Linked Data

• dbSNP Id: rs1891749338

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34793441_34793442del , CM000677.2:g.34793441_34793442del	GRCh38
NC_000015.9:g.35085642_35085643del , CM000677.1:g.35085642_35085643del	GRCh37
NC_000015.8:g.32872934_32872935del	NCBI36
NG_007553.1:g.7286_7287del , LRG_388:g.7286_7287del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.364_365del (ACTC1)
ENST00000290378.6:c.258_259del (ACTC1) MANE Select	ENSP00000290378.4:p.Lys86AsnfsTer9
ENST00000647798.1:n.405_406del (ACTC1)
ENST00000648556.1:n.415_416del (ACTC1)
ENST00000650163.1:n.338_339del (ACTC1)
ENST00000290378.4:c.258_259del (ACTC1)	ENSP00000290378.4:p.Lys86AsnfsTer9
NM_005159.4:c.258_259del , LRG_388t1:c.258_259del (ACTC1)	NP_005150.1:p.Lys86AsnfsTer9
NR_120329.1:n.299+16010_299+16011del (GJD2-DT)
NM_005159.5:c.258_259del (ACTC1) MANE Select	NP_005150.1:p.Lys86AsnfsTer9