Canonical Allele Identifier: CA655827053

Gene: ACTC1 GJD2-DT

Linked Data

• COSMIC: COSN20071862

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34790677_34790683del , CM000677.2:g.34790677_34790683del	GRCh38
NC_000015.9:g.35082878_35082884del , CM000677.1:g.35082878_35082884del	GRCh37
NC_000015.8:g.32870170_32870176del	NCBI36
NG_007553.1:g.10047_10053del , LRG_388:g.10047_10053del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1891-125_1891-119del (ACTC1)
ENST00000290378.6:c.991-125_991-119del (ACTC1) MANE Select	ENSP00000290378.4:n.991-125_991-119del
ENST00000647798.1:n.1085-125_1085-119del (ACTC1)
ENST00000650163.1:n.1071-125_1071-119del (ACTC1)
ENST00000290378.4:c.991-125_991-119del (ACTC1)	ENSP00000290378.4:n.991-125_991-119del
NM_005159.4:c.991-125_991-119del , LRG_388t1:c.991-125_991-119del (ACTC1)	NP_005150.1:n.991-125_991-119del
NR_120329.1:n.299+13246_299+13252del (GJD2-DT)
NM_005159.5:c.991-125_991-119del (ACTC1) MANE Select	NP_005150.1:n.991-125_991-119del