Canonical Allele Identifier: CA2803722660

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791315_34791316insAACACA , CM000677.2:g.34791315_34791316insAACACA	GRCh38
NC_000015.9:g.35083516_35083517insAACACA , CM000677.1:g.35083516_35083517insAACACA	GRCh37
NC_000015.8:g.32870808_32870809insAACACA	NCBI36
NG_007553.1:g.9416_9417insTTGTGT , LRG_388:g.9416_9417insTTGTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1693_1694insTTGTGT (ACTC1)
ENST00000290378.6:c.809-16_809-15insTTGTGT (ACTC1) MANE Select	ENSP00000290378.4:n.809-16_809-15insTTGTGT
ENST00000647798.1:n.903-16_903-15insTTGTGT (ACTC1)
ENST00000650163.1:n.889-16_889-15insTTGTGT (ACTC1)
ENST00000290378.4:c.809-16_809-15insTTGTGT (ACTC1)	ENSP00000290378.4:n.809-16_809-15insTTGTGT
ENST00000557860.1:n.499-16_499-15insTTGTGT (ACTC1)
NM_005159.4:c.809-16_809-15insTTGTGT , LRG_388t1:c.809-16_809-15insTTGTGT (ACTC1)	NP_005150.1:n.809-16_809-15insTTGTGT
NR_120329.1:n.299+13884_299+13885insAACACA (GJD2-DT)
NM_005159.5:c.809-16_809-15insTTGTGT (ACTC1) MANE Select	NP_005150.1:n.809-16_809-15insTTGTGT