Canonical Allele Identifier: CA2627662895

Gene: ACTC1 GJD2-DT

Linked Data

• ClinVar Variation Id: 3070404
• ClinVar RCV Id: RCV004012914
• gnomAD v4: 15-34792291-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792294del , CM000677.2:g.34792294del	GRCh38
NC_000015.9:g.35084495del , CM000677.1:g.35084495del	GRCh37
NC_000015.8:g.32871787del	NCBI36
NG_007553.1:g.8435del , LRG_388:g.8435del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.723-11del (ACTC1)
ENST00000290378.6:c.617-11del (ACTC1) MANE Select	ENSP00000290378.4:n.617-11del
ENST00000647798.1:n.711-11del (ACTC1)
ENST00000648556.1:n.774-11del (ACTC1)
ENST00000650163.1:n.697-11del (ACTC1)
ENST00000290378.4:c.617-11del (ACTC1)	ENSP00000290378.4:n.617-11del
ENST00000557860.1:n.307-11del (ACTC1)
ENST00000560563.1:n.116-11del (ACTC1)
NM_005159.4:c.617-11del , LRG_388t1:c.617-11del (ACTC1)	NP_005150.1:n.617-11del
NR_120329.1:n.299+14863del (GJD2-DT)
NM_005159.5:c.617-11del (ACTC1) MANE Select	NP_005150.1:n.617-11del