Canonical Allele Identifier: CA968569622

Gene: ACTC1 GJD2-DT

Linked Data

• gnomAD v3: 15-34791353-A-ACACACACAC
• gnomAD v4: 15-34791353-A-ACACACACAC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791353_34791354insCACACACAC , CM000677.2:g.34791353_34791354insCACACACAC	GRCh38
NC_000015.9:g.35083554_35083555insCACACACAC , CM000677.1:g.35083554_35083555insCACACACAC	GRCh37
NC_000015.8:g.32870846_32870847insCACACACAC	NCBI36
NG_007553.1:g.9373_9374insGTGTGTGTG , LRG_388:g.9373_9374insGTGTGTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1650_1651insGTGTGTGTG (ACTC1)
ENST00000290378.6:c.809-59_809-58insGTGTGTGTG (ACTC1) MANE Select	ENSP00000290378.4:n.809-59_809-58insGTGTGTGTG
ENST00000647798.1:n.903-59_903-58insGTGTGTGTG (ACTC1)
ENST00000650163.1:n.889-59_889-58insGTGTGTGTG (ACTC1)
ENST00000290378.4:c.809-59_809-58insGTGTGTGTG (ACTC1)	ENSP00000290378.4:n.809-59_809-58insGTGTGTGTG
ENST00000557860.1:n.499-59_499-58insGTGTGTGTG (ACTC1)
NM_005159.4:c.809-59_809-58insGTGTGTGTG , LRG_388t1:c.809-59_809-58insGTGTGTGTG (ACTC1)	NP_005150.1:n.809-59_809-58insGTGTGTGTG
NR_120329.1:n.299+13922_299+13923insCACACACAC (GJD2-DT)
NM_005159.5:c.809-59_809-58insGTGTGTGTG (ACTC1) MANE Select	NP_005150.1:n.809-59_809-58insGTGTGTGTG