Canonical Allele Identifier: CA2627662236

Gene: ACTC1 GJD2-DT

Linked Data

• gnomAD v4: 15-34791321-A-ACG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791322_34791323insGC , CM000677.2:g.34791322_34791323insGC	GRCh38
NC_000015.9:g.35083523_35083524insGC , CM000677.1:g.35083523_35083524insGC	GRCh37
NC_000015.8:g.32870815_32870816insGC	NCBI36
NG_007553.1:g.9405_9406insCG , LRG_388:g.9405_9406insCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1682_1683insCG (ACTC1)
ENST00000290378.6:c.809-27_809-26insCG (ACTC1) MANE Select	ENSP00000290378.4:n.809-27_809-26insCG
ENST00000647798.1:n.903-27_903-26insCG (ACTC1)
ENST00000650163.1:n.889-27_889-26insCG (ACTC1)
ENST00000290378.4:c.809-27_809-26insCG (ACTC1)	ENSP00000290378.4:n.809-27_809-26insCG
ENST00000557860.1:n.499-27_499-26insCG (ACTC1)
NM_005159.4:c.809-27_809-26insCG , LRG_388t1:c.809-27_809-26insCG (ACTC1)	NP_005150.1:n.809-27_809-26insCG
NR_120329.1:n.299+13891_299+13892insGC (GJD2-DT)
NM_005159.5:c.809-27_809-26insCG (ACTC1) MANE Select	NP_005150.1:n.809-27_809-26insCG