Canonical Allele Identifier: CA655826969

Gene: ACTC1 GJD2-DT

Linked Data

• COSMIC: COSN20092957

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34788493_34788494insT , CM000677.2:g.34788493_34788494insT	GRCh38
NC_000015.9:g.35080694_35080695insT , CM000677.1:g.35080694_35080695insT	GRCh37
NC_000015.8:g.32867986_32867987insT	NCBI36
NG_007553.1:g.12233_12234insA , LRG_388:g.12233_12234insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290378.4:c.*1918_*1919insA (ACTC1)	ENSP00000290378.4:n.*1918_*1919insA
NM_005159.4:c.*1918_*1919insA , LRG_388t1:c.*1918_*1919insA (ACTC1)	NP_005150.1:n.*1918_*1919insA
NR_120329.1:n.299+11062_299+11063insT (GJD2-DT)