Linked Data
dbSNP Id:
rs774779678
ExAC:
22:44342179 A / AACTT
gnomAD v2:
22-44342179-A-AACTT
gnomAD v3:
22-43946299-A-AACTT
gnomAD v4:
22-43946299-A-AACTT
MyVariant Identifiers:
chr22:g.44342179_44342180insACTT (hg19)
chr22:g.43946299_43946300insACTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43946300_43946303dup , CM000684.2:g.43946300_43946303dup | GRCh38 |
| NC_000022.10:g.44342180_44342183dup , CM000684.1:g.44342180_44342183dup | GRCh37 |
| NC_000022.9:g.42673513_42673516dup | NCBI36 |
| NG_008631.1:g.27562_27565dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216180.8:c.1364_1367dup MANE Select | ENSP00000216180.3:p.Phe456LeufsTer7 | |
| ENST00000216180.7:c.1364_1367dup | ENSP00000216180.3:p.Phe456LeufsTer7 | |
| ENST00000406117.6:c.*849+1505_*849+1508dup | ENSP00000384668.2:n.*849+1505_*849+1508dup | |
| ENST00000423180.2:c.1352_1355dup | ENSP00000397987.2:p.Phe452LeufsTer7 | |
| NM_025225.2:c.1364_1367dup | NP_079501.2:p.Phe456LeufsTer7 | |
| NM_025225.3:c.1364_1367dup MANE Select | NP_079501.2:p.Phe456LeufsTer7 |