Canonical Allele Identifier: CA2554797895

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34793229_34793230insTTA , CM000677.2:g.34793229_34793230insTTA	GRCh38
NC_000015.9:g.35085430_35085431insTTA , CM000677.1:g.35085430_35085431insTTA	GRCh37
NC_000015.8:g.32872722_32872723insTTA	NCBI36
NG_007553.1:g.7497_7498insTAA , LRG_388:g.7497_7498insTAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000560563.2:n.560+15_560+16insTAA (ACTC1)
ENST00000290378.6:c.454+15_454+16insTAA (ACTC1) MANE Select	ENSP00000290378.4:n.454+15_454+16insTAA
ENST00000647798.1:n.548+68_548+69insTAA (ACTC1)
ENST00000648556.1:n.611+15_611+16insTAA (ACTC1)
ENST00000650163.1:n.534+15_534+16insTAA (ACTC1)
ENST00000290378.4:c.454+15_454+16insTAA (ACTC1)	ENSP00000290378.4:n.454+15_454+16insTAA
NM_005159.4:c.454+15_454+16insTAA , LRG_388t1:c.454+15_454+16insTAA (ACTC1)	NP_005150.1:n.454+15_454+16insTAA
NR_120329.1:n.299+15798_299+15799insTTA (GJD2-DT)
NM_005159.5:c.454+15_454+16insTAA (ACTC1) MANE Select	NP_005150.1:n.454+15_454+16insTAA