Canonical Allele Identifier: CA712280441

Gene: ACTC1 GJD2-DT

Linked Data

• dbSNP Id: rs1193260968
• gnomAD v3: 15-34793145-A-AT
• gnomAD v4: 15-34793145-A-AT
• MyVariant Identifiers: chr15:g.35085346_35085347insT (hg19) ; chr15:g.34793145_34793146insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34793145_34793146insT , CM000677.2:g.34793145_34793146insT	GRCh38
NC_000015.9:g.35085346_35085347insT , CM000677.1:g.35085346_35085347insT	GRCh37
NC_000015.8:g.32872638_32872639insT	NCBI36
NG_007553.1:g.7581_7582insA , LRG_388:g.7581_7582insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.560+99_560+100insA (ACTC1)
ENST00000290378.6:c.454+99_454+100insA (ACTC1) MANE Select	ENSP00000290378.4:n.454+99_454+100insA
ENST00000647798.1:n.548+152_548+153insA (ACTC1)
ENST00000648556.1:n.611+99_611+100insA (ACTC1)
ENST00000650163.1:n.534+99_534+100insA (ACTC1)
ENST00000290378.4:c.454+99_454+100insA (ACTC1)	ENSP00000290378.4:n.454+99_454+100insA
NM_005159.4:c.454+99_454+100insA , LRG_388t1:c.454+99_454+100insA (ACTC1)	NP_005150.1:n.454+99_454+100insA
NR_120329.1:n.299+15714_299+15715insT (GJD2-DT)
NM_005159.5:c.454+99_454+100insA (ACTC1) MANE Select	NP_005150.1:n.454+99_454+100insA