Canonical Allele Identifier: CA2627662513

Gene: ACTC1 GJD2-DT

Linked Data

• gnomAD v4: 15-34791353-A-ACG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791353_34791354insCG , CM000677.2:g.34791353_34791354insCG	GRCh38
NC_000015.9:g.35083554_35083555insCG , CM000677.1:g.35083554_35083555insCG	GRCh37
NC_000015.8:g.32870846_32870847insCG	NCBI36
NG_007553.1:g.9373_9374insCG , LRG_388:g.9373_9374insCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1650_1651insCG (ACTC1)
ENST00000290378.6:c.809-59_809-58insCG (ACTC1) MANE Select	ENSP00000290378.4:n.809-59_809-58insCG
ENST00000647798.1:n.903-59_903-58insCG (ACTC1)
ENST00000650163.1:n.889-59_889-58insCG (ACTC1)
ENST00000290378.4:c.809-59_809-58insCG (ACTC1)	ENSP00000290378.4:n.809-59_809-58insCG
ENST00000557860.1:n.499-59_499-58insCG (ACTC1)
NM_005159.4:c.809-59_809-58insCG , LRG_388t1:c.809-59_809-58insCG (ACTC1)	NP_005150.1:n.809-59_809-58insCG
NR_120329.1:n.299+13922_299+13923insCG (GJD2-DT)
NM_005159.5:c.809-59_809-58insCG (ACTC1) MANE Select	NP_005150.1:n.809-59_809-58insCG