Canonical Allele Identifier: CA2169200810

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34788977_34788978delinsAC , CM000677.2:g.34788977_34788978delinsAC	GRCh38
NC_000015.9:g.35081178_35081179delinsAC , CM000677.1:g.35081178_35081179delinsAC	GRCh37
NC_000015.8:g.32868470_32868471delinsAC	NCBI36
NG_007553.1:g.11749_11750delinsGT , LRG_388:g.11749_11750delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290378.4:c.*1434_*1435delinsGT (ACTC1)	ENSP00000290378.4:n.*1434_*1435delinsGT
NM_005159.4:c.*1434_*1435delinsGT , LRG_388t1:c.*1434_*1435delinsGT (ACTC1)	NP_005150.1:n.*1434_*1435delinsGT
NR_120329.1:n.299+11546_299+11547delinsAC (GJD2-DT)