Canonical Allele Identifier: CA2169207779

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792186_34792189delinsGGGA , CM000677.2:g.34792186_34792189delinsGGGA	GRCh38
NC_000015.9:g.35084387_35084390delinsGGGA , CM000677.1:g.35084387_35084390delinsGGGA	GRCh37
NC_000015.8:g.32871679_32871682delinsGGGA	NCBI36
NG_007553.1:g.8538_8541delinsTCCC , LRG_388:g.8538_8541delinsTCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.815_818delinsTCCC (ACTC1)
ENST00000290378.6:c.709_712delinsTCCC (ACTC1) MANE Select	ENSP00000290378.4:p.Ser237=
ENST00000647798.1:n.803_806delinsTCCC (ACTC1)
ENST00000650163.1:n.789_792delinsTCCC (ACTC1)
ENST00000290378.4:c.709_712delinsTCCC (ACTC1)	ENSP00000290378.4:p.Ser237=
ENST00000557860.1:n.399_402delinsTCCC (ACTC1)
ENST00000560563.1:n.208_211delinsTCCC (ACTC1)
NM_005159.4:c.709_712delinsTCCC , LRG_388t1:c.709_712delinsTCCC (ACTC1)	NP_005150.1:p.Ser237=
NR_120329.1:n.299+14755_299+14758delinsGGGA (GJD2-DT)
NM_005159.5:c.709_712delinsTCCC (ACTC1) MANE Select	NP_005150.1:p.Ser237=