Canonical Allele Identifier: CA2169209860

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34793116_34793117delinsTA , CM000677.2:g.34793116_34793117delinsTA	GRCh38
NC_000015.9:g.35085317_35085318delinsTA , CM000677.1:g.35085317_35085318delinsTA	GRCh37
NC_000015.8:g.32872609_32872610delinsTA	NCBI36
NG_007553.1:g.7610_7611delinsTA , LRG_388:g.7610_7611delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.560+128_560+129delinsTA (ACTC1)
ENST00000290378.6:c.454+128_454+129delinsTA (ACTC1) MANE Select	ENSP00000290378.4:n.454+128_454+129delinsTA
ENST00000647798.1:n.548+181_548+182delinsTA (ACTC1)
ENST00000648556.1:n.611+128_611+129delinsTA (ACTC1)
ENST00000650163.1:n.534+128_534+129delinsTA (ACTC1)
ENST00000290378.4:c.454+128_454+129delinsTA (ACTC1)	ENSP00000290378.4:n.454+128_454+129delinsTA
NM_005159.4:c.454+128_454+129delinsTA , LRG_388t1:c.454+128_454+129delinsTA (ACTC1)	NP_005150.1:n.454+128_454+129delinsTA
NR_120329.1:n.299+15685_299+15686delinsTA (GJD2-DT)
NM_005159.5:c.454+128_454+129delinsTA (ACTC1) MANE Select	NP_005150.1:n.454+128_454+129delinsTA