Canonical Allele Identifier: CA712313096

Gene: ACTC1 GJD2-DT

Linked Data

• dbSNP Id: rs1362648173
• gnomAD v3: 15-34788511-AAAAG-A
• gnomAD v4: 15-34788511-AAAAG-A
• MyVariant Identifiers: chr15:g.35080713_35080716del (hg19) ; chr15:g.34788512_34788515del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34788517_34788520del , CM000677.2:g.34788517_34788520del	GRCh38
NC_000015.9:g.35080718_35080721del , CM000677.1:g.35080718_35080721del	GRCh37
NC_000015.8:g.32868010_32868013del	NCBI36
NG_007553.1:g.12212_12215del , LRG_388:g.12212_12215del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290378.4:c.*1897_*1900del (ACTC1)	ENSP00000290378.4:n.*1897_*1900del
NM_005159.4:c.*1897_*1900del , LRG_388t1:c.*1897_*1900del (ACTC1)	NP_005150.1:n.*1897_*1900del
NR_120329.1:n.299+11086_299+11089del (GJD2-DT)