Canonical Allele Identifier: CA042854

Gene: ACTC1 GJD2-DT

Linked Data

• dbSNP Id: rs781651067
• ExAC: 15:35083545 CACA / C
• gnomAD v2: 15-35083545-CACA-C
• MyVariant Identifiers: chr15:g.35083546_35083548del (hg19) ; chr15:g.34791345_34791347del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791345_34791347del , CM000677.2:g.34791345_34791347del	GRCh38
NC_000015.9:g.35083546_35083548del , CM000677.1:g.35083546_35083548del	GRCh37
NC_000015.8:g.32870838_32870840del	NCBI36
NG_007553.1:g.9380_9382del , LRG_388:g.9380_9382del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1657_1659del (ACTC1)
ENST00000290378.6:c.809-52_809-50del (ACTC1) MANE Select	ENSP00000290378.4:n.809-52_809-50del
ENST00000647798.1:n.903-52_903-50del (ACTC1)
ENST00000650163.1:n.889-52_889-50del (ACTC1)
ENST00000290378.4:c.809-52_809-50del (ACTC1)	ENSP00000290378.4:n.809-52_809-50del
ENST00000557860.1:n.499-52_499-50del (ACTC1)
NM_005159.4:c.809-52_809-50del , LRG_388t1:c.809-52_809-50del (ACTC1)	NP_005150.1:n.809-52_809-50del
NR_120329.1:n.299+13914_299+13916del (GJD2-DT)
NM_005159.5:c.809-52_809-50del (ACTC1) MANE Select	NP_005150.1:n.809-52_809-50del