Linked Data
dbSNP Id:
rs1415899380
gnomAD v2:
9-133748548-C-CATTGG
gnomAD v4:
9-130873161-C-CATTGG
MyVariant Identifiers:
chr9:g.133748548_133748549insATTGG (hg19)
chr9:g.130873161_130873162insATTGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130873163_130873167dup , CM000671.2:g.130873163_130873167dup | GRCh38 |
| NC_000009.11:g.133748550_133748554dup , CM000671.1:g.133748550_133748554dup | GRCh37 |
| NC_000009.10:g.132738371_132738375dup | NCBI36 |
| NG_012034.1:g.164283_164287dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372348.9:c.1142+126_1142+130dup | ENSP00000361423.2:n.1142+126_1142+130dup | |
| ENST00000318560.6:c.1085+126_1085+130dup MANE Select | ENSP00000323315.5:n.1085+126_1085+130dup | |
| ENST00000372348.7:c.1142+126_1142+130dup | ENSP00000361423.2:n.1142+126_1142+130dup | |
| ENST00000318560.5:c.1085+126_1085+130dup | ENSP00000323315.5:n.1085+126_1085+130dup | |
| ENST00000372348.6:c.1142+126_1142+130dup | ENSP00000361423.2:n.1142+126_1142+130dup | |
| NM_005157.5:c.1085+126_1085+130dup | NP_005148.2:n.1085+126_1085+130dup | |
| NM_007313.2:c.1142+126_1142+130dup | NP_009297.2:n.1142+126_1142+130dup | |
| NM_005157.6:c.1085+126_1085+130dup MANE Select | NP_005148.2:n.1085+126_1085+130dup | |
| NM_007313.3:c.1142+126_1142+130dup | NP_009297.2:n.1142+126_1142+130dup |