Canonical Allele Identifier: CA2169204476

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34790600_34790601delinsAG , CM000677.2:g.34790600_34790601delinsAG	GRCh38
NC_000015.9:g.35082801_35082802delinsAG , CM000677.1:g.35082801_35082802delinsAG	GRCh37
NC_000015.8:g.32870093_32870094delinsAG	NCBI36
NG_007553.1:g.10126_10127delinsCT , LRG_388:g.10126_10127delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1891-46_1891-45delinsCT (ACTC1)
ENST00000290378.6:c.991-46_991-45delinsCT (ACTC1) MANE Select	ENSP00000290378.4:n.991-46_991-45delinsCT
ENST00000647798.1:n.1085-46_1085-45delinsCT (ACTC1)
ENST00000650163.1:n.1071-46_1071-45delinsCT (ACTC1)
ENST00000290378.4:c.991-46_991-45delinsCT (ACTC1)	ENSP00000290378.4:n.991-46_991-45delinsCT
NM_005159.4:c.991-46_991-45delinsCT , LRG_388t1:c.991-46_991-45delinsCT (ACTC1)	NP_005150.1:n.991-46_991-45delinsCT
NR_120329.1:n.299+13169_299+13170delinsAG (GJD2-DT)
NM_005159.5:c.991-46_991-45delinsCT (ACTC1) MANE Select	NP_005150.1:n.991-46_991-45delinsCT