Canonical Allele Identifier: CA915946507

Gene: ACTC1 GJD2-DT

Linked Data

• ClinVar Variation Id: 652872
• ClinVar RCV Id: RCV000808529
• dbSNP Id: rs1595760207

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791145_34791147dup , CM000677.2:g.34791145_34791147dup	GRCh38
NC_000015.9:g.35083346_35083348dup , CM000677.1:g.35083346_35083348dup	GRCh37
NC_000015.8:g.32870638_32870640dup	NCBI36
NG_007553.1:g.9580_9582dup , LRG_388:g.9580_9582dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1857_1859dup (ACTC1)
ENST00000290378.6:c.957_959dup (ACTC1) MANE Select	ENSP00000290378.4:p.Thr320_Ala321insThr
ENST00000647798.1:n.1051_1053dup (ACTC1)
ENST00000650163.1:n.1037_1039dup (ACTC1)
ENST00000290378.4:c.957_959dup (ACTC1)	ENSP00000290378.4:p.Thr320_Ala321insThr
NM_005159.4:c.957_959dup , LRG_388t1:c.957_959dup (ACTC1)	NP_005150.1:p.Thr320_Ala321insThr
NR_120329.1:n.299+13714_299+13716dup (GJD2-DT)
NM_005159.5:c.957_959dup (ACTC1) MANE Select	NP_005150.1:p.Thr320_Ala321insThr