Canonical Allele Identifier: CA2169199765

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34788511_34788515delinsAAAAG , CM000677.2:g.34788511_34788515delinsAAAAG	GRCh38
NC_000015.9:g.35080712_35080716delinsAAAAG , CM000677.1:g.35080712_35080716delinsAAAAG	GRCh37
NC_000015.8:g.32868004_32868008delinsAAAAG	NCBI36
NG_007553.1:g.12212_12216delinsCTTTT , LRG_388:g.12212_12216delinsCTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290378.4:c.*1897_*1901delinsCTTTT (ACTC1)	ENSP00000290378.4:n.*1897_*1901delinsCTTTT
NM_005159.4:c.*1897_*1901delinsCTTTT , LRG_388t1:c.*1897_*1901delinsCTTTT (ACTC1)	NP_005150.1:n.*1897_*1901delinsCTTTT
NR_120329.1:n.299+11080_299+11084delinsAAAAG (GJD2-DT)