Canonical Allele Identifier: CA2575670228

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34793563_34793564del , CM000677.2:g.34793563_34793564del	GRCh38
NC_000015.9:g.35085764_35085765del , CM000677.1:g.35085764_35085765del	GRCh37
NC_000015.8:g.32873056_32873057del	NCBI36
NG_007553.1:g.7164_7165del , LRG_388:g.7164_7165del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.242_243del (ACTC1)
ENST00000290378.6:c.136_137del (ACTC1) MANE Select	ENSP00000290378.4:p.Met46GlyfsTer12
ENST00000647798.1:n.283_284del (ACTC1)
ENST00000648556.1:n.293_294del (ACTC1)
ENST00000650163.1:n.216_217del (ACTC1)
ENST00000290378.4:c.136_137del (ACTC1)	ENSP00000290378.4:p.Met46GlyfsTer12
NM_005159.4:c.136_137del , LRG_388t1:c.136_137del (ACTC1)	NP_005150.1:p.Met46GlyfsTer12
NR_120329.1:n.299+16132_299+16133del (GJD2-DT)
NM_005159.5:c.136_137del (ACTC1) MANE Select	NP_005150.1:p.Met46GlyfsTer12