Canonical Allele Identifier: CA2169206486

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791423_34791425delinsTTG , CM000677.2:g.34791423_34791425delinsTTG	GRCh38
NC_000015.9:g.35083624_35083626delinsTTG , CM000677.1:g.35083624_35083626delinsTTG	GRCh37
NC_000015.8:g.32870916_32870918delinsTTG	NCBI36
NG_007553.1:g.9302_9304delinsCAA , LRG_388:g.9302_9304delinsCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1579_1581delinsCAA (ACTC1)
ENST00000290378.6:c.809-130_809-128delinsCAA (ACTC1) MANE Select	ENSP00000290378.4:n.809-130_809-128delinsCAA
ENST00000647798.1:n.903-130_903-128delinsCAA (ACTC1)
ENST00000650163.1:n.889-130_889-128delinsCAA (ACTC1)
ENST00000290378.4:c.809-130_809-128delinsCAA (ACTC1)	ENSP00000290378.4:n.809-130_809-128delinsCAA
ENST00000557860.1:n.499-130_499-128delinsCAA (ACTC1)
NM_005159.4:c.809-130_809-128delinsCAA , LRG_388t1:c.809-130_809-128delinsCAA (ACTC1)	NP_005150.1:n.809-130_809-128delinsCAA
NR_120329.1:n.299+13992_299+13994delinsTTG (GJD2-DT)
NM_005159.5:c.809-130_809-128delinsCAA (ACTC1) MANE Select	NP_005150.1:n.809-130_809-128delinsCAA