Canonical Allele Identifier: CA2169209842

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34793108_34793110delinsCTT , CM000677.2:g.34793108_34793110delinsCTT	GRCh38
NC_000015.9:g.35085309_35085311delinsCTT , CM000677.1:g.35085309_35085311delinsCTT	GRCh37
NC_000015.8:g.32872601_32872603delinsCTT	NCBI36
NG_007553.1:g.7617_7619delinsAAG , LRG_388:g.7617_7619delinsAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.560+135_560+137delinsAAG (ACTC1)
ENST00000290378.6:c.454+135_454+137delinsAAG (ACTC1) MANE Select	ENSP00000290378.4:n.454+135_454+137delinsAAG
ENST00000647798.1:n.548+188_548+190delinsAAG (ACTC1)
ENST00000648556.1:n.611+135_611+137delinsAAG (ACTC1)
ENST00000650163.1:n.534+135_534+137delinsAAG (ACTC1)
ENST00000290378.4:c.454+135_454+137delinsAAG (ACTC1)	ENSP00000290378.4:n.454+135_454+137delinsAAG
NM_005159.4:c.454+135_454+137delinsAAG , LRG_388t1:c.454+135_454+137delinsAAG (ACTC1)	NP_005150.1:n.454+135_454+137delinsAAG
NR_120329.1:n.299+15677_299+15679delinsCTT (GJD2-DT)
NM_005159.5:c.454+135_454+137delinsAAG (ACTC1) MANE Select	NP_005150.1:n.454+135_454+137delinsAAG