Canonical Allele Identifier: CA2169209845

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34793112_34793113delinsCT , CM000677.2:g.34793112_34793113delinsCT	GRCh38
NC_000015.9:g.35085313_35085314delinsCT , CM000677.1:g.35085313_35085314delinsCT	GRCh37
NC_000015.8:g.32872605_32872606delinsCT	NCBI36
NG_007553.1:g.7614_7615delinsAG , LRG_388:g.7614_7615delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.560+132_560+133delinsAG (ACTC1)
ENST00000290378.6:c.454+132_454+133delinsAG (ACTC1) MANE Select	ENSP00000290378.4:n.454+132_454+133delinsAG
ENST00000647798.1:n.548+185_548+186delinsAG (ACTC1)
ENST00000648556.1:n.611+132_611+133delinsAG (ACTC1)
ENST00000650163.1:n.534+132_534+133delinsAG (ACTC1)
ENST00000290378.4:c.454+132_454+133delinsAG (ACTC1)	ENSP00000290378.4:n.454+132_454+133delinsAG
NM_005159.4:c.454+132_454+133delinsAG , LRG_388t1:c.454+132_454+133delinsAG (ACTC1)	NP_005150.1:n.454+132_454+133delinsAG
NR_120329.1:n.299+15681_299+15682delinsCT (GJD2-DT)
NM_005159.5:c.454+132_454+133delinsAG (ACTC1) MANE Select	NP_005150.1:n.454+132_454+133delinsAG