Canonical Allele Identifier: CA2169206116

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791330_34791331delinsCA , CM000677.2:g.34791330_34791331delinsCA	GRCh38
NC_000015.9:g.35083531_35083532delinsCA , CM000677.1:g.35083531_35083532delinsCA	GRCh37
NC_000015.8:g.32870823_32870824delinsCA	NCBI36
NG_007553.1:g.9396_9397delinsTG , LRG_388:g.9396_9397delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1673_1674delinsTG (ACTC1)
ENST00000290378.6:c.809-36_809-35delinsTG (ACTC1) MANE Select	ENSP00000290378.4:n.809-36_809-35delinsTG
ENST00000647798.1:n.903-36_903-35delinsTG (ACTC1)
ENST00000650163.1:n.889-36_889-35delinsTG (ACTC1)
ENST00000290378.4:c.809-36_809-35delinsTG (ACTC1)	ENSP00000290378.4:n.809-36_809-35delinsTG
ENST00000557860.1:n.499-36_499-35delinsTG (ACTC1)
NM_005159.4:c.809-36_809-35delinsTG , LRG_388t1:c.809-36_809-35delinsTG (ACTC1)	NP_005150.1:n.809-36_809-35delinsTG
NR_120329.1:n.299+13899_299+13900delinsCA (GJD2-DT)
NM_005159.5:c.809-36_809-35delinsTG (ACTC1) MANE Select	NP_005150.1:n.809-36_809-35delinsTG