Canonical Allele Identifier: CA2627662509

Gene: ACTC1 GJD2-DT

Linked Data

• gnomAD v4: 15-34791351-ACAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791354_34791356del , CM000677.2:g.34791354_34791356del	GRCh38
NC_000015.9:g.35083555_35083557del , CM000677.1:g.35083555_35083557del	GRCh37
NC_000015.8:g.32870847_32870849del	NCBI36
NG_007553.1:g.9373_9375del , LRG_388:g.9373_9375del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1650_1652del (ACTC1)
ENST00000290378.6:c.809-59_809-57del (ACTC1) MANE Select	ENSP00000290378.4:n.809-59_809-57del
ENST00000647798.1:n.903-59_903-57del (ACTC1)
ENST00000650163.1:n.889-59_889-57del (ACTC1)
ENST00000290378.4:c.809-59_809-57del (ACTC1)	ENSP00000290378.4:n.809-59_809-57del
ENST00000557860.1:n.499-59_499-57del (ACTC1)
NM_005159.4:c.809-59_809-57del , LRG_388t1:c.809-59_809-57del (ACTC1)	NP_005150.1:n.809-59_809-57del
NR_120329.1:n.299+13923_299+13925del (GJD2-DT)
NM_005159.5:c.809-59_809-57del (ACTC1) MANE Select	NP_005150.1:n.809-59_809-57del