Canonical Allele Identifier: CA2627662928

Gene: ACTC1 GJD2-DT

Linked Data

• gnomAD v4: 15-34792391-G-GAGACACACACACCCAC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792403_34792404insCCACAGACACACACAC , CM000677.2:g.34792403_34792404insCCACAGACACACACAC	GRCh38
NC_000015.9:g.35084604_35084605insCCACAGACACACACAC , CM000677.1:g.35084604_35084605insCCACAGACACACACAC	GRCh37
NC_000015.8:g.32871896_32871897insCCACAGACACACACAC	NCBI36
NG_007553.1:g.8335_8336insGTGGGTGTGTGTGTCT , LRG_388:g.8335_8336insGTGGGTGTGTGTGTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.722+16_722+17insGTGGGTGTGTGTGTCT (ACTC1)
ENST00000290378.6:c.616+16_616+17insGTGGGTGTGTGTGTCT (ACTC1) MANE Select	ENSP00000290378.4:n.616+16_616+17insGTGGGTGTGTGTGTCT
ENST00000647798.1:n.710+16_710+17insGTGGGTGTGTGTGTCT (ACTC1)
ENST00000648556.1:n.773+16_773+17insGTGGGTGTGTGTGTCT (ACTC1)
ENST00000650163.1:n.696+16_696+17insGTGGGTGTGTGTGTCT (ACTC1)
ENST00000290378.4:c.616+16_616+17insGTGGGTGTGTGTGTCT (ACTC1)	ENSP00000290378.4:n.616+16_616+17insGTGGGTGTGTGTGTCT
ENST00000557860.1:n.306+16_306+17insGTGGGTGTGTGTGTCT (ACTC1)
ENST00000560563.1:n.115+16_115+17insGTGGGTGTGTGTGTCT (ACTC1)
NM_005159.4:c.616+16_616+17insGTGGGTGTGTGTGTCT , LRG_388t1:c.616+16_616+17insGTGGGTGTGTGTGTCT (ACTC1)	NP_005150.1:n.616+16_616+17insGTGGGTGTGTGTGTCT
NR_120329.1:n.299+14972_299+14973insCCACAGACACACACAC (GJD2-DT)
NM_005159.5:c.616+16_616+17insGTGGGTGTGTGTGTCT (ACTC1) MANE Select	NP_005150.1:n.616+16_616+17insGTGGGTGTGTGTGTCT