Linked Data
dbSNP Id:
rs547582830
gnomAD v2:
10-88516902-T-TC
gnomAD v3:
10-86757145-T-TC
gnomAD v4:
10-86757145-T-TC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.86757148dup , CM000672.2:g.86757148dup | GRCh38 |
| NC_000010.10:g.88516905dup , CM000672.1:g.88516905dup | GRCh37 |
| NC_000010.9:g.88506885dup | NCBI36 |
| NG_009362.1:g.5510dup , LRG_298:g.5510dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480152.3:c.-373+229dup | ENSP00000483569.2:n.-373+229dup | |
| ENST00000635816.2:c.-268+229dup | ENSP00000489707.1:n.-268+229dup | |
| ENST00000636056.2:c.-268+229dup | ENSP00000490273.1:n.-268+229dup | |
| ENST00000372037.8:c.-268+229dup MANE Select | ENSP00000361107.2:n.-268+229dup | |
| ENST00000638429.1:c.-268+229dup | ENSP00000492290.1:n.-268+229dup | |
| ENST00000372037.7:c.-268+229dup | ENSP00000361107.1:n.-268+229dup | |
| NM_004329.2:c.-268+229dup , LRG_298t1:c.-268+229dup | NP_004320.2:n.-268+229dup | |
| XM_011540103.1:c.-268+1185dup | XP_011538405.1:n.-268+1185dup | |
| XM_011540104.1:c.-373+229dup | XP_011538406.1:n.-373+229dup | |
| XM_011540103.2:c.-268+1185dup | XP_011538405.1:n.-268+1185dup | |
| XM_011540104.2:c.-373+229dup | XP_011538406.1:n.-373+229dup | |
| NM_004329.3:c.-268+229dup MANE Select | NP_004320.2:n.-268+229dup |