Canonical Allele Identifier: CA2169207271

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791985_34791995delinsGACTTCTTTTA , CM000677.2:g.34791985_34791995delinsGACTTCTTTTA	GRCh38
NC_000015.9:g.35084186_35084196delinsGACTTCTTTTA , CM000677.1:g.35084186_35084196delinsGACTTCTTTTA	GRCh37
NC_000015.8:g.32871478_32871488delinsGACTTCTTTTA	NCBI36
NG_007553.1:g.8732_8742delinsTAAAAGAAGTC , LRG_388:g.8732_8742delinsTAAAAGAAGTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000560563.2:n.1009_1019delinsTAAAAGAAGTC (ACTC1)
ENST00000290378.6:c.808+95_808+105delinsTAAAAGAAGTC (ACTC1) MANE Select	ENSP00000290378.4:n.808+95_808+105delinsT...
ENST00000647798.1:n.902+95_902+105delinsTAAAAGAAGTC (ACTC1)
ENST00000650163.1:n.888+95_888+105delinsTAAAAGAAGTC (ACTC1)
ENST00000290378.4:c.808+95_808+105delinsTAAAAGAAGTC (ACTC1)	ENSP00000290378.4:n.808+95_808+105delinsT...
ENST00000557860.1:n.498+95_498+105delinsTAAAAGAAGTC (ACTC1)
ENST00000560563.1:n.402_412delinsTAAAAGAAGTC (ACTC1)
NM_005159.4:c.808+95_808+105delinsTAAAAGAAGTC , LRG_388t1:c.808+95_808+105delinsTAAAAGAAGTC (ACTC1)	NP_005150.1:n.808+95_808+105delinsTAAAAGA...
NR_120329.1:n.299+14554_299+14564delinsGACTTCTTTTA (GJD2-DT)
NM_005159.5:c.808+95_808+105delinsTAAAAGAAGTC (ACTC1) MANE Select	NP_005150.1:n.808+95_808+105delinsTAAAAGA...