Canonical Allele Identifier: CA2169206648

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791561_34791571delinsCAGATGTATGA , CM000677.2:g.34791561_34791571delinsCAGATGTATGA	GRCh38
NC_000015.9:g.35083762_35083772delinsCAGATGTATGA , CM000677.1:g.35083762_35083772delinsCAGATGTATGA	GRCh37
NC_000015.8:g.32871054_32871064delinsCAGATGTATGA	NCBI36
NG_007553.1:g.9156_9166delinsTCATACATCTG , LRG_388:g.9156_9166delinsTCATACATCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1433_1443delinsTCATACATCTG (ACTC1)
ENST00000290378.6:c.809-276_809-266delinsTCATACATCTG (ACTC1) MANE Select	ENSP00000290378.4:n.809-276_809-266delinsTCATACATCTG
ENST00000647798.1:n.903-276_903-266delinsTCATACATCTG (ACTC1)
ENST00000650163.1:n.889-276_889-266delinsTCATACATCTG (ACTC1)
ENST00000290378.4:c.809-276_809-266delinsTCATACATCTG (ACTC1)	ENSP00000290378.4:n.809-276_809-266delinsTCATACATCTG
ENST00000557860.1:n.499-276_499-266delinsTCATACATCTG (ACTC1)
NM_005159.4:c.809-276_809-266delinsTCATACATCTG , LRG_388t1:c.809-276_809-266delinsTCATACATCTG (ACTC1)	NP_005150.1:n.809-276_809-266delinsTCATACATCTG
NR_120329.1:n.299+14130_299+14140delinsCAGATGTATGA (GJD2-DT)
NM_005159.5:c.809-276_809-266delinsTCATACATCTG (ACTC1) MANE Select	NP_005150.1:n.809-276_809-266delinsTCATACATCTG