Canonical Allele Identifier: CA2524884757

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791316_34791317insTT , CM000677.2:g.34791316_34791317insTT	GRCh38
NC_000015.9:g.35083517_35083518insTT , CM000677.1:g.35083517_35083518insTT	GRCh37
NC_000015.8:g.32870809_32870810insTT	NCBI36
NG_007553.1:g.9410_9411insAA , LRG_388:g.9410_9411insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1687_1688insAA (ACTC1)
ENST00000290378.6:c.809-22_809-21insAA (ACTC1) MANE Select	ENSP00000290378.4:n.809-22_809-21insAA
ENST00000647798.1:n.903-22_903-21insAA (ACTC1)
ENST00000650163.1:n.889-22_889-21insAA (ACTC1)
ENST00000290378.4:c.809-22_809-21insAA (ACTC1)	ENSP00000290378.4:n.809-22_809-21insAA
ENST00000557860.1:n.499-22_499-21insAA (ACTC1)
NM_005159.4:c.809-22_809-21insAA , LRG_388t1:c.809-22_809-21insAA (ACTC1)	NP_005150.1:n.809-22_809-21insAA
NR_120329.1:n.299+13885_299+13886insTT (GJD2-DT)
NM_005159.5:c.809-22_809-21insAA (ACTC1) MANE Select	NP_005150.1:n.809-22_809-21insAA