Canonical Allele Identifier: CA2542600816

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34789064_34789065insGCCTTTTGAGAATTTGGG , CM000677.2:g.34789064_34789065insGCCTTTTGAGAATTTGGG	GRCh38
NC_000015.9:g.35081265_35081266insGCCTTTTGAGAATTTGGG , CM000677.1:g.35081265_35081266insGCCTTTTGAGAATTTGGG	GRCh37
NC_000015.8:g.32868557_32868558insGCCTTTTGAGAATTTGGG	NCBI36
NG_007553.1:g.11662_11663insCCCAAATTCTCAAAAGGC , LRG_388:g.11662_11663insCCCAAATTCTCAAAAGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290378.4:c.*1347_*1348insCCCAAATTCTCAAAAGGC (ACTC1)	ENSP00000290378.4:n.*1347_*1348insCCCAAATTCTCAAAAGGC
NM_005159.4:c.*1347_*1348insCCCAAATTCTCAAAAGGC , LRG_388t1:c.*1347_*1348insCCCAAATTCTCAAAAGGC (ACTC1)	NP_005150.1:n.*1347_*1348insCCCAAATTCTCAAAAGGC
NR_120329.1:n.299+11633_299+11634insGCCTTTTGAGAATTTGGG (GJD2-DT)