Canonical Allele Identifier: CA2169207783

Gene: ACTC1 GJD2-DT

Linked Data

• ClinVar Variation Id: 2634608
• ClinVar RCV Id: RCV003392862
• dbSNP Id: rs1891718996

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34792193_34792195del , CM000677.2:g.34792193_34792195del	GRCh38
NC_000015.9:g.35084394_35084396del , CM000677.1:g.35084394_35084396del	GRCh37
NC_000015.8:g.32871686_32871688del	NCBI36
NG_007553.1:g.8538_8540del , LRG_388:g.8538_8540del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.815_817del (ACTC1)
ENST00000290378.6:c.709_711del (ACTC1) MANE Select	ENSP00000290378.4:p.Ser237del
ENST00000647798.1:n.803_805del (ACTC1)
ENST00000650163.1:n.789_791del (ACTC1)
ENST00000290378.4:c.709_711del (ACTC1)	ENSP00000290378.4:p.Ser237del
ENST00000557860.1:n.399_401del (ACTC1)
ENST00000560563.1:n.208_210del (ACTC1)
NM_005159.4:c.709_711del , LRG_388t1:c.709_711del (ACTC1)	NP_005150.1:p.Ser237del
NR_120329.1:n.299+14762_299+14764del (GJD2-DT)
NM_005159.5:c.709_711del (ACTC1) MANE Select	NP_005150.1:p.Ser237del