Canonical Allele Identifier: CA2627662544

Gene: ACTC1 GJD2-DT

Linked Data

• gnomAD v4: 15-34791409-GGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791411_34791412del , CM000677.2:g.34791411_34791412del	GRCh38
NC_000015.9:g.35083612_35083613del , CM000677.1:g.35083612_35083613del	GRCh37
NC_000015.8:g.32870904_32870905del	NCBI36
NG_007553.1:g.9316_9317del , LRG_388:g.9316_9317del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1593_1594del (ACTC1)
ENST00000290378.6:c.809-116_809-115del (ACTC1) MANE Select	ENSP00000290378.4:n.809-116_809-115del
ENST00000647798.1:n.903-116_903-115del (ACTC1)
ENST00000650163.1:n.889-116_889-115del (ACTC1)
ENST00000290378.4:c.809-116_809-115del (ACTC1)	ENSP00000290378.4:n.809-116_809-115del
ENST00000557860.1:n.499-116_499-115del (ACTC1)
NM_005159.4:c.809-116_809-115del , LRG_388t1:c.809-116_809-115del (ACTC1)	NP_005150.1:n.809-116_809-115del
NR_120329.1:n.299+13980_299+13981del (GJD2-DT)
NM_005159.5:c.809-116_809-115del (ACTC1) MANE Select	NP_005150.1:n.809-116_809-115del