Canonical Allele Identifier: CA2573150662

Gene: ACTC1 GJD2-DT

Linked Data

• ClinVar Variation Id: 1384877
• ClinVar RCV Id: RCV001902675
• dbSNP Id: rs2140430851

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792422_34792425dup , CM000677.2:g.34792422_34792425dup	GRCh38
NC_000015.9:g.35084623_35084626dup , CM000677.1:g.35084623_35084626dup	GRCh37
NC_000015.8:g.32871915_32871918dup	NCBI36
NG_007553.1:g.8302_8305dup , LRG_388:g.8302_8305dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.705_708dup (ACTC1)
ENST00000290378.6:c.599_602dup (ACTC1) MANE Select	ENSP00000290378.4:p.Phe202LeufsTer7
ENST00000647798.1:n.693_696dup (ACTC1)
ENST00000648556.1:n.756_759dup (ACTC1)
ENST00000650163.1:n.679_682dup (ACTC1)
ENST00000290378.4:c.599_602dup (ACTC1)	ENSP00000290378.4:p.Phe202LeufsTer7
ENST00000557860.1:n.289_292dup (ACTC1)
ENST00000560563.1:n.98_101dup (ACTC1)
NM_005159.4:c.599_602dup , LRG_388t1:c.599_602dup (ACTC1)	NP_005150.1:p.Phe202LeufsTer7
NR_120329.1:n.299+14991_299+14994dup (GJD2-DT)
NM_005159.5:c.599_602dup (ACTC1) MANE Select	NP_005150.1:p.Phe202LeufsTer7