Canonical Allele Identifier: CA2575670192

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792291_34792292del , CM000677.2:g.34792291_34792292del	GRCh38
NC_000015.9:g.35084492_35084493del , CM000677.1:g.35084492_35084493del	GRCh37
NC_000015.8:g.32871784_32871785del	NCBI36
NG_007553.1:g.8436_8437del , LRG_388:g.8436_8437del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.723-10_723-9del (ACTC1)
ENST00000290378.6:c.617-10_617-9del (ACTC1) MANE Select	ENSP00000290378.4:n.617-10_617-9del
ENST00000647798.1:n.711-10_711-9del (ACTC1)
ENST00000648556.1:n.774-10_774-9del (ACTC1)
ENST00000650163.1:n.697-10_697-9del (ACTC1)
ENST00000290378.4:c.617-10_617-9del (ACTC1)	ENSP00000290378.4:n.617-10_617-9del
ENST00000557860.1:n.307-10_307-9del (ACTC1)
ENST00000560563.1:n.116-10_116-9del (ACTC1)
NM_005159.4:c.617-10_617-9del , LRG_388t1:c.617-10_617-9del (ACTC1)	NP_005150.1:n.617-10_617-9del
NR_120329.1:n.299+14860_299+14861del (GJD2-DT)
NM_005159.5:c.617-10_617-9del (ACTC1) MANE Select	NP_005150.1:n.617-10_617-9del