Canonical Allele Identifier: CA2169204495

Gene: ACTC1 GJD2-DT

Linked Data

• dbSNP Id: rs1891684563

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34790605_34790606insAGTACGAT , CM000677.2:g.34790605_34790606insAGTACGAT	GRCh38
NC_000015.9:g.35082806_35082807insAGTACGAT , CM000677.1:g.35082806_35082807insAGTACGAT	GRCh37
NC_000015.8:g.32870098_32870099insAGTACGAT	NCBI36
NG_007553.1:g.10121_10122insATCGTACT , LRG_388:g.10121_10122insATCGTACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1891-51_1891-50insATCGTACT (ACTC1)
ENST00000290378.6:c.991-51_991-50insATCGTACT (ACTC1) MANE Select	ENSP00000290378.4:n.991-51_991-50insATCGTACT
ENST00000647798.1:n.1085-51_1085-50insATCGTACT (ACTC1)
ENST00000650163.1:n.1071-51_1071-50insATCGTACT (ACTC1)
ENST00000290378.4:c.991-51_991-50insATCGTACT (ACTC1)	ENSP00000290378.4:n.991-51_991-50insATCGTACT
NM_005159.4:c.991-51_991-50insATCGTACT , LRG_388t1:c.991-51_991-50insATCGTACT (ACTC1)	NP_005150.1:n.991-51_991-50insATCGTACT
NR_120329.1:n.299+13174_299+13175insAGTACGAT (GJD2-DT)
NM_005159.5:c.991-51_991-50insATCGTACT (ACTC1) MANE Select	NP_005150.1:n.991-51_991-50insATCGTACT