Canonical Allele Identifier: CA2169208345

Gene: ACTC1 GJD2-DT

Linked Data

• ClinVar Variation Id: 1014502
• ClinVar RCV Id: RCV001313243
• dbSNP Id: rs1891723274

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792404_34792407del , CM000677.2:g.34792404_34792407del	GRCh38
NC_000015.9:g.35084605_35084608del , CM000677.1:g.35084605_35084608del	GRCh37
NC_000015.8:g.32871897_32871900del	NCBI36
NG_007553.1:g.8323_8326del , LRG_388:g.8323_8326del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.722+4_722+7del (ACTC1)
ENST00000290378.6:c.616+4_616+7del (ACTC1) MANE Select	ENSP00000290378.4:n.616+4_616+7del
ENST00000647798.1:n.710+4_710+7del (ACTC1)
ENST00000648556.1:n.773+4_773+7del (ACTC1)
ENST00000650163.1:n.696+4_696+7del (ACTC1)
ENST00000290378.4:c.616+4_616+7del (ACTC1)	ENSP00000290378.4:n.616+4_616+7del
ENST00000557860.1:n.306+4_306+7del (ACTC1)
ENST00000560563.1:n.115+4_115+7del (ACTC1)
NM_005159.4:c.616+4_616+7del , LRG_388t1:c.616+4_616+7del (ACTC1)	NP_005150.1:n.616+4_616+7del
NR_120329.1:n.299+14973_299+14976del (GJD2-DT)
NM_005159.5:c.616+4_616+7del (ACTC1) MANE Select	NP_005150.1:n.616+4_616+7del