Canonical Allele Identifier: CA2627662232

Gene: ACTC1 GJD2-DT

Linked Data

• gnomAD v4: 15-34791316-C-CAT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791317_34791318insTA , CM000677.2:g.34791317_34791318insTA	GRCh38
NC_000015.9:g.35083518_35083519insTA , CM000677.1:g.35083518_35083519insTA	GRCh37
NC_000015.8:g.32870810_32870811insTA	NCBI36
NG_007553.1:g.9410_9411insAT , LRG_388:g.9410_9411insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1687_1688insAT (ACTC1)
ENST00000290378.6:c.809-22_809-21insAT (ACTC1) MANE Select	ENSP00000290378.4:n.809-22_809-21insAT
ENST00000647798.1:n.903-22_903-21insAT (ACTC1)
ENST00000650163.1:n.889-22_889-21insAT (ACTC1)
ENST00000290378.4:c.809-22_809-21insAT (ACTC1)	ENSP00000290378.4:n.809-22_809-21insAT
ENST00000557860.1:n.499-22_499-21insAT (ACTC1)
NM_005159.4:c.809-22_809-21insAT , LRG_388t1:c.809-22_809-21insAT (ACTC1)	NP_005150.1:n.809-22_809-21insAT
NR_120329.1:n.299+13886_299+13887insTA (GJD2-DT)
NM_005159.5:c.809-22_809-21insAT (ACTC1) MANE Select	NP_005150.1:n.809-22_809-21insAT