Canonical Allele Identifier: CA042822

Gene: ACTC1 GJD2-DT

Linked Data

• dbSNP Id: rs750091318
• ExAC: 15:35083523 C / CAG
• gnomAD v2: 15-35083523-C-CAG
• gnomAD v4: 15-34791322-C-CAG
• MyVariant Identifiers: chr15:g.35083523_35083524insAG (hg19) ; chr15:g.34791322_34791323insAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791323_34791324insGA , CM000677.2:g.34791323_34791324insGA	GRCh38
NC_000015.9:g.35083524_35083525insGA , CM000677.1:g.35083524_35083525insGA	GRCh37
NC_000015.8:g.32870816_32870817insGA	NCBI36
NG_007553.1:g.9404_9405insCT , LRG_388:g.9404_9405insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1681_1682insCT (ACTC1)
ENST00000290378.6:c.809-28_809-27insCT (ACTC1) MANE Select	ENSP00000290378.4:n.809-28_809-27insCT
ENST00000647798.1:n.903-28_903-27insCT (ACTC1)
ENST00000650163.1:n.889-28_889-27insCT (ACTC1)
ENST00000290378.4:c.809-28_809-27insCT (ACTC1)	ENSP00000290378.4:n.809-28_809-27insCT
ENST00000557860.1:n.499-28_499-27insCT (ACTC1)
NM_005159.4:c.809-28_809-27insCT , LRG_388t1:c.809-28_809-27insCT (ACTC1)	NP_005150.1:n.809-28_809-27insCT
NR_120329.1:n.299+13892_299+13893insGA (GJD2-DT)
NM_005159.5:c.809-28_809-27insCT (ACTC1) MANE Select	NP_005150.1:n.809-28_809-27insCT