Canonical Allele Identifier: CA2169206073

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791312_34791313delinsCA , CM000677.2:g.34791312_34791313delinsCA	GRCh38
NC_000015.9:g.35083513_35083514delinsCA , CM000677.1:g.35083513_35083514delinsCA	GRCh37
NC_000015.8:g.32870805_32870806delinsCA	NCBI36
NG_007553.1:g.9414_9415delinsTG , LRG_388:g.9414_9415delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1691_1692delinsTG (ACTC1)
ENST00000290378.6:c.809-18_809-17delinsTG (ACTC1) MANE Select	ENSP00000290378.4:n.809-18_809-17delinsTG
ENST00000647798.1:n.903-18_903-17delinsTG (ACTC1)
ENST00000650163.1:n.889-18_889-17delinsTG (ACTC1)
ENST00000290378.4:c.809-18_809-17delinsTG (ACTC1)	ENSP00000290378.4:n.809-18_809-17delinsTG
ENST00000557860.1:n.499-18_499-17delinsTG (ACTC1)
NM_005159.4:c.809-18_809-17delinsTG , LRG_388t1:c.809-18_809-17delinsTG (ACTC1)	NP_005150.1:n.809-18_809-17delinsTG
NR_120329.1:n.299+13881_299+13882delinsCA (GJD2-DT)
NM_005159.5:c.809-18_809-17delinsTG (ACTC1) MANE Select	NP_005150.1:n.809-18_809-17delinsTG