Canonical Allele Identifier: CA2169211021

Gene: ACTC1 GJD2-DT

Linked Data

• dbSNP Id: rs1891754581

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34793604_34793605insTGG , CM000677.2:g.34793604_34793605insTGG	GRCh38
NC_000015.9:g.35085805_35085806insTGG , CM000677.1:g.35085805_35085806insTGG	GRCh37
NC_000015.8:g.32873097_32873098insTGG	NCBI36
NG_007553.1:g.7122_7123insCCA , LRG_388:g.7122_7123insCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.236-36_236-35insCCA (ACTC1)
ENST00000290378.6:c.130-36_130-35insCCA (ACTC1) MANE Select	ENSP00000290378.4:n.130-36_130-35insCCA
ENST00000647798.1:n.277-36_277-35insCCA (ACTC1)
ENST00000648556.1:n.287-36_287-35insCCA (ACTC1)
ENST00000650163.1:n.210-36_210-35insCCA (ACTC1)
ENST00000290378.4:c.130-36_130-35insCCA (ACTC1)	ENSP00000290378.4:n.130-36_130-35insCCA
NM_005159.4:c.130-36_130-35insCCA , LRG_388t1:c.130-36_130-35insCCA (ACTC1)	NP_005150.1:n.130-36_130-35insCCA
NR_120329.1:n.299+16173_299+16174insTGG (GJD2-DT)
NM_005159.5:c.130-36_130-35insCCA (ACTC1) MANE Select	NP_005150.1:n.130-36_130-35insCCA