Canonical Allele Identifier: CA655826973

Gene: ACTC1 GJD2-DT

Linked Data

• COSMIC: COSN16635691

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34788610_34788611insA , CM000677.2:g.34788610_34788611insA	GRCh38
NC_000015.9:g.35080811_35080812insA , CM000677.1:g.35080811_35080812insA	GRCh37
NC_000015.8:g.32868103_32868104insA	NCBI36
NG_007553.1:g.12116_12117insT , LRG_388:g.12116_12117insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290378.4:c.*1801_*1802insT (ACTC1)	ENSP00000290378.4:n.*1801_*1802insT
NM_005159.4:c.*1801_*1802insT , LRG_388t1:c.*1801_*1802insT (ACTC1)	NP_005150.1:n.*1801_*1802insT
NR_120329.1:n.299+11179_299+11180insA (GJD2-DT)