Linked Data
gnomAD v4:
9-129813959-C-CCAATCATGACTGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129813967_129813979dup , CM000671.2:g.129813967_129813979dup | GRCh38 |
| NC_000009.11:g.132576246_132576258dup , CM000671.1:g.132576246_132576258dup | GRCh37 |
| NC_000009.10:g.131616067_131616079dup | NCBI36 |
| NG_008049.1:g.15191_15203dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000351698.5:c.999_*12dup MANE Select | ENSP00000345719.4:n.999_*12dup | |
| ENST00000651202.1:c.*267_*279dup | ENSP00000498222.1:n.*267_*279dup | |
| ENST00000351698.4:c.999_*12dup | ENSP00000345719.4:n.999_*12dup | |
| ENST00000474192.1:n.583_595dup | ||
| NM_000113.2:c.999_*12dup | NP_000104.1:n.999_*12dup | |
| XR_929731.3:n.1194_1206dup | ||
| NM_000113.3:c.999_*12dup MANE Select | NP_000104.1:n.999_*12dup |