Canonical Allele Identifier: CA2627662518

Gene: ACTC1 GJD2-DT

Linked Data

• gnomAD v4: 15-34791358-AGTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791359_34791361del , CM000677.2:g.34791359_34791361del	GRCh38
NC_000015.9:g.35083560_35083562del , CM000677.1:g.35083560_35083562del	GRCh37
NC_000015.8:g.32870852_32870854del	NCBI36
NG_007553.1:g.9366_9368del , LRG_388:g.9366_9368del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1643_1645del (ACTC1)
ENST00000290378.6:c.809-66_809-64del (ACTC1) MANE Select	ENSP00000290378.4:n.809-66_809-64del
ENST00000647798.1:n.903-66_903-64del (ACTC1)
ENST00000650163.1:n.889-66_889-64del (ACTC1)
ENST00000290378.4:c.809-66_809-64del (ACTC1)	ENSP00000290378.4:n.809-66_809-64del
ENST00000557860.1:n.499-66_499-64del (ACTC1)
NM_005159.4:c.809-66_809-64del , LRG_388t1:c.809-66_809-64del (ACTC1)	NP_005150.1:n.809-66_809-64del
NR_120329.1:n.299+13928_299+13930del (GJD2-DT)
NM_005159.5:c.809-66_809-64del (ACTC1) MANE Select	NP_005150.1:n.809-66_809-64del