Canonical Allele Identifier: CA2169206563

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791498_34791499delinsCA , CM000677.2:g.34791498_34791499delinsCA	GRCh38
NC_000015.9:g.35083699_35083700delinsCA , CM000677.1:g.35083699_35083700delinsCA	GRCh37
NC_000015.8:g.32870991_32870992delinsCA	NCBI36
NG_007553.1:g.9228_9229delinsTG , LRG_388:g.9228_9229delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1505_1506delinsTG (ACTC1)
ENST00000290378.6:c.809-204_809-203delinsTG (ACTC1) MANE Select	ENSP00000290378.4:n.809-204_809-203delinsTG
ENST00000647798.1:n.903-204_903-203delinsTG (ACTC1)
ENST00000650163.1:n.889-204_889-203delinsTG (ACTC1)
ENST00000290378.4:c.809-204_809-203delinsTG (ACTC1)	ENSP00000290378.4:n.809-204_809-203delinsTG
ENST00000557860.1:n.499-204_499-203delinsTG (ACTC1)
NM_005159.4:c.809-204_809-203delinsTG , LRG_388t1:c.809-204_809-203delinsTG (ACTC1)	NP_005150.1:n.809-204_809-203delinsTG
NR_120329.1:n.299+14067_299+14068delinsCA (GJD2-DT)
NM_005159.5:c.809-204_809-203delinsTG (ACTC1) MANE Select	NP_005150.1:n.809-204_809-203delinsTG