Canonical Allele Identifier: CA2169211007

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34793598_34793600delinsGCT , CM000677.2:g.34793598_34793600delinsGCT	GRCh38
NC_000015.9:g.35085799_35085801delinsGCT , CM000677.1:g.35085799_35085801delinsGCT	GRCh37
NC_000015.8:g.32873091_32873093delinsGCT	NCBI36
NG_007553.1:g.7127_7129delinsAGC , LRG_388:g.7127_7129delinsAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.236-31_236-29delinsAGC (ACTC1)
ENST00000290378.6:c.130-31_130-29delinsAGC (ACTC1) MANE Select	ENSP00000290378.4:n.130-31_130-29delinsAGC
ENST00000647798.1:n.277-31_277-29delinsAGC (ACTC1)
ENST00000648556.1:n.287-31_287-29delinsAGC (ACTC1)
ENST00000650163.1:n.210-31_210-29delinsAGC (ACTC1)
ENST00000290378.4:c.130-31_130-29delinsAGC (ACTC1)	ENSP00000290378.4:n.130-31_130-29delinsAGC
NM_005159.4:c.130-31_130-29delinsAGC , LRG_388t1:c.130-31_130-29delinsAGC (ACTC1)	NP_005150.1:n.130-31_130-29delinsAGC
NR_120329.1:n.299+16167_299+16169delinsGCT (GJD2-DT)
NM_005159.5:c.130-31_130-29delinsAGC (ACTC1) MANE Select	NP_005150.1:n.130-31_130-29delinsAGC