Canonical Allele Identifier: CA2575670105

Gene: ACTC1 GJD2-DT

Linked Data

• gnomAD v4: 15-34790631-TCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34790634_34790635del , CM000677.2:g.34790634_34790635del	GRCh38
NC_000015.9:g.35082835_35082836del , CM000677.1:g.35082835_35082836del	GRCh37
NC_000015.8:g.32870127_32870128del	NCBI36
NG_007553.1:g.10094_10095del , LRG_388:g.10094_10095del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1891-78_1891-77del (ACTC1)
ENST00000290378.6:c.991-78_991-77del (ACTC1) MANE Select	ENSP00000290378.4:n.991-78_991-77del
ENST00000647798.1:n.1085-78_1085-77del (ACTC1)
ENST00000650163.1:n.1071-78_1071-77del (ACTC1)
ENST00000290378.4:c.991-78_991-77del (ACTC1)	ENSP00000290378.4:n.991-78_991-77del
NM_005159.4:c.991-78_991-77del , LRG_388t1:c.991-78_991-77del (ACTC1)	NP_005150.1:n.991-78_991-77del
NR_120329.1:n.299+13203_299+13204del (GJD2-DT)
NM_005159.5:c.991-78_991-77del (ACTC1) MANE Select	NP_005150.1:n.991-78_991-77del