Canonical Allele Identifier: CA2169206179

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791342_34791343delinsCA , CM000677.2:g.34791342_34791343delinsCA	GRCh38
NC_000015.9:g.35083543_35083544delinsCA , CM000677.1:g.35083543_35083544delinsCA	GRCh37
NC_000015.8:g.32870835_32870836delinsCA	NCBI36
NG_007553.1:g.9384_9385delinsTG , LRG_388:g.9384_9385delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1661_1662delinsTG (ACTC1)
ENST00000290378.6:c.809-48_809-47delinsTG (ACTC1) MANE Select	ENSP00000290378.4:n.809-48_809-47delinsTG
ENST00000647798.1:n.903-48_903-47delinsTG (ACTC1)
ENST00000650163.1:n.889-48_889-47delinsTG (ACTC1)
ENST00000290378.4:c.809-48_809-47delinsTG (ACTC1)	ENSP00000290378.4:n.809-48_809-47delinsTG
ENST00000557860.1:n.499-48_499-47delinsTG (ACTC1)
NM_005159.4:c.809-48_809-47delinsTG , LRG_388t1:c.809-48_809-47delinsTG (ACTC1)	NP_005150.1:n.809-48_809-47delinsTG
NR_120329.1:n.299+13911_299+13912delinsCA (GJD2-DT)
NM_005159.5:c.809-48_809-47delinsTG (ACTC1) MANE Select	NP_005150.1:n.809-48_809-47delinsTG