Canonical Allele Identifier: CA2627662224

Gene: ACTC1 GJD2-DT

Linked Data

• gnomAD v4: 15-34791308-CACACA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791309_34791313del , CM000677.2:g.34791309_34791313del	GRCh38
NC_000015.9:g.35083510_35083514del , CM000677.1:g.35083510_35083514del	GRCh37
NC_000015.8:g.32870802_32870806del	NCBI36
NG_007553.1:g.9414_9418del , LRG_388:g.9414_9418del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1691_1695del (ACTC1)
ENST00000290378.6:c.809-18_809-14del (ACTC1) MANE Select	ENSP00000290378.4:n.809-18_809-14del
ENST00000647798.1:n.903-18_903-14del (ACTC1)
ENST00000650163.1:n.889-18_889-14del (ACTC1)
ENST00000290378.4:c.809-18_809-14del (ACTC1)	ENSP00000290378.4:n.809-18_809-14del
ENST00000557860.1:n.499-18_499-14del (ACTC1)
NM_005159.4:c.809-18_809-14del , LRG_388t1:c.809-18_809-14del (ACTC1)	NP_005150.1:n.809-18_809-14del
NR_120329.1:n.299+13878_299+13882del (GJD2-DT)
NM_005159.5:c.809-18_809-14del (ACTC1) MANE Select	NP_005150.1:n.809-18_809-14del