Canonical Allele Identifier: CA2169209912

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34793168_34793169delinsTG , CM000677.2:g.34793168_34793169delinsTG	GRCh38
NC_000015.9:g.35085369_35085370delinsTG , CM000677.1:g.35085369_35085370delinsTG	GRCh37
NC_000015.8:g.32872661_32872662delinsTG	NCBI36
NG_007553.1:g.7558_7559delinsCA , LRG_388:g.7558_7559delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.560+76_560+77delinsCA (ACTC1)
ENST00000290378.6:c.454+76_454+77delinsCA (ACTC1) MANE Select	ENSP00000290378.4:n.454+76_454+77delinsCA
ENST00000647798.1:n.548+129_548+130delinsCA (ACTC1)
ENST00000648556.1:n.611+76_611+77delinsCA (ACTC1)
ENST00000650163.1:n.534+76_534+77delinsCA (ACTC1)
ENST00000290378.4:c.454+76_454+77delinsCA (ACTC1)	ENSP00000290378.4:n.454+76_454+77delinsCA
NM_005159.4:c.454+76_454+77delinsCA , LRG_388t1:c.454+76_454+77delinsCA (ACTC1)	NP_005150.1:n.454+76_454+77delinsCA
NR_120329.1:n.299+15737_299+15738delinsTG (GJD2-DT)
NM_005159.5:c.454+76_454+77delinsCA (ACTC1) MANE Select	NP_005150.1:n.454+76_454+77delinsCA