Canonical Allele Identifier: CA2575670196

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792383_34792384del , CM000677.2:g.34792383_34792384del	GRCh38
NC_000015.9:g.35084584_35084585del , CM000677.1:g.35084584_35084585del	GRCh37
NC_000015.8:g.32871876_32871877del	NCBI36
NG_007553.1:g.8345_8346del , LRG_388:g.8345_8346del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.722+26_722+27del (ACTC1)
ENST00000290378.6:c.616+26_616+27del (ACTC1) MANE Select	ENSP00000290378.4:n.616+26_616+27del
ENST00000647798.1:n.710+26_710+27del (ACTC1)
ENST00000648556.1:n.773+26_773+27del (ACTC1)
ENST00000650163.1:n.696+26_696+27del (ACTC1)
ENST00000290378.4:c.616+26_616+27del (ACTC1)	ENSP00000290378.4:n.616+26_616+27del
ENST00000557860.1:n.306+26_306+27del (ACTC1)
ENST00000560563.1:n.115+26_115+27del (ACTC1)
NM_005159.4:c.616+26_616+27del , LRG_388t1:c.616+26_616+27del (ACTC1)	NP_005150.1:n.616+26_616+27del
NR_120329.1:n.299+14952_299+14953del (GJD2-DT)
NM_005159.5:c.616+26_616+27del (ACTC1) MANE Select	NP_005150.1:n.616+26_616+27del