Linked Data
dbSNP Id:
rs763024426
gnomAD v2:
9-140033649-A-AGCCGCC
gnomAD v3:
9-137139197-A-AGCCGCC
gnomAD v4:
9-137139197-A-AGCCGCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137139211_137139216dup , CM000671.2:g.137139211_137139216dup | GRCh38 |
| NC_000009.11:g.140033663_140033668dup , CM000671.1:g.140033663_140033668dup | GRCh37 |
| NC_000009.10:g.139153484_139153489dup | NCBI36 |
| NG_011507.1:g.5055_5060dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371553.8:c.-276_-271dup | ENSP00000360608.3:n.-276_-271dup | |
| ENST00000371560.5:c.-276_-271dup | ENSP00000360615.3:n.-276_-271dup | |
| ENST00000371561.8:c.-276_-271dup MANE Select | ENSP00000360616.3:n.-276_-271dup | |
| ENST00000350902.9:c.-276_-271dup | ENSP00000316915.9:n.-276_-271dup | |
| ENST00000371561.7:c.-276_-271dup | ENSP00000360616.3:n.-276_-271dup | |
| NM_000832.6:c.-276_-271dup | NP_000823.4:n.-276_-271dup | |
| NM_001185090.1:c.-276_-271dup | NP_001172019.1:n.-276_-271dup | |
| NM_001185091.1:c.-276_-271dup | NP_001172020.1:n.-276_-271dup | |
| NM_007327.3:c.-276_-271dup | NP_015566.1:n.-276_-271dup | |
| NM_021569.3:c.-276_-271dup | NP_067544.1:n.-276_-271dup | |
| XM_005266071.2:c.-276_-271dup | XP_005266128.1:n.-276_-271dup | |
| XM_005266072.2:c.-276_-271dup | XP_005266129.1:n.-276_-271dup | |
| XM_005266073.3:c.-276_-271dup | XP_005266130.1:n.-276_-271dup | |
| XM_011518583.1:c.-276_-271dup | XP_011516885.1:n.-276_-271dup | |
| XM_005266072.3:c.-276_-271dup | XP_005266129.1:n.-276_-271dup | |
| XM_005266073.4:c.-276_-271dup | XP_005266130.1:n.-276_-271dup | |
| XM_011518583.2:c.-276_-271dup | XP_011516885.1:n.-276_-271dup | |
| NM_007327.4:c.-276_-271dup MANE Select | NP_015566.1:n.-276_-271dup | |
| NM_000832.7:c.-276_-271dup | NP_000823.4:n.-276_-271dup | |
| NM_001185090.2:c.-276_-271dup | NP_001172019.1:n.-276_-271dup | |
| NM_001185091.2:c.-276_-271dup | NP_001172020.1:n.-276_-271dup | |
| NM_021569.4:c.-276_-271dup | NP_067544.1:n.-276_-271dup |