Canonical Allele Identifier: CA2565541169

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34793227_34793228insTCATGATTGCACA , CM000677.2:g.34793227_34793228insTCATGATTGCACA	GRCh38
NC_000015.9:g.35085428_35085429insTCATGATTGCACA , CM000677.1:g.35085428_35085429insTCATGATTGCACA	GRCh37
NC_000015.8:g.32872720_32872721insTCATGATTGCACA	NCBI36
NG_007553.1:g.7499_7500insTGTGCAATCATGA , LRG_388:g.7499_7500insTGTGCAATCATGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000560563.2:n.560+17_560+18insTGTGCAATCATGA (ACTC1)
ENST00000290378.6:c.454+17_454+18insTGTGCAATCATGA (ACTC1) MANE Select	ENSP00000290378.4:n.454+17_454+18insTGTGC...
ENST00000647798.1:n.548+70_548+71insTGTGCAATCATGA (ACTC1)
ENST00000648556.1:n.611+17_611+18insTGTGCAATCATGA (ACTC1)
ENST00000650163.1:n.534+17_534+18insTGTGCAATCATGA (ACTC1)
ENST00000290378.4:c.454+17_454+18insTGTGCAATCATGA (ACTC1)	ENSP00000290378.4:n.454+17_454+18insTGTGC...
NM_005159.4:c.454+17_454+18insTGTGCAATCATGA , LRG_388t1:c.454+17_454+18insTGTGCAATCATGA (ACTC1)	NP_005150.1:n.454+17_454+18insTGTGCAATCAT...
NR_120329.1:n.299+15796_299+15797insTCATGATTGCACA (GJD2-DT)
NM_005159.5:c.454+17_454+18insTGTGCAATCATGA (ACTC1) MANE Select	NP_005150.1:n.454+17_454+18insTGTGCAATCAT...