Linked Data
dbSNP Id:
rs372213868
gnomAD v2:
1-65298731-T-TATCA
gnomAD v3:
1-64833048-T-TATCA
gnomAD v4:
1-64833048-T-TATCA
MyVariant Identifiers:
chr1:g.65298731_65298732insATCA (hg19)
chr1:g.64833048_64833049insATCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.64833053_64833056dup , CM000663.2:g.64833053_64833056dup | GRCh38 |
| NC_000001.10:g.65298736_65298739dup , CM000663.1:g.65298736_65298739dup | GRCh37 |
| NC_000001.9:g.65071324_65071327dup | NCBI36 |
| NG_023402.1:g.138453_138456dup | |
| NG_023402.2:g.239695_239698dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000294428.8:c.*2068_*2071dup MANE Select | ENSP00000294428.3:n.*2068_*2071dup | |
| ENST00000294428.7:c.*2068_*2071dup | ENSP00000294428.3:n.*2068_*2071dup | |
| ENST00000371072.8:c.*2068_*2071dup | ENSP00000360112.4:n.*2068_*2071dup | |
| NM_018211.3:c.*2068_*2071dup | NP_060681.2:n.*2068_*2071dup | |
| XM_006710738.2:c.*2068_*2071dup | XP_006710801.2:n.*2068_*2071dup | |
| NM_001366165.1:c.*2068_*2071dup | NP_001353094.1:n.*2068_*2071dup | |
| XR_946693.3:n.4487_4490dup | ||
| NM_018211.4:c.*2068_*2071dup | NP_060681.2:n.*2068_*2071dup | |
| NM_001366165.2:c.*2068_*2071dup MANE Select | NP_001353094.1:n.*2068_*2071dup |