Linked Data
dbSNP Id:
rs775562853
gnomAD v2:
7-151329275-CCGGCCGGCGGGCTCG-C
gnomAD v3:
7-151632189-CCGGCCGGCGGGCTCG-C
gnomAD v4:
7-151632189-CCGGCCGGCGGGCTCG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151632198_151632212del , CM000669.2:g.151632198_151632212del | GRCh38 |
| NC_000007.13:g.151329284_151329298del , CM000669.1:g.151329284_151329298del | GRCh37 |
| NC_000007.12:g.150960217_150960231del | NCBI36 |
| NG_007486.1:g.250027_250041del | |
| NG_007486.2:g.250028_250042del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478989.7:c.-105_-91del | ENSP00000420645.3:n.-105_-91del | |
| ENST00000652321.2:c.685-66_685-52del | ENSP00000498886.2:n.685-66_685-52del | |
| ENST00000287878.9:c.685-66_685-52del MANE Select | ENSP00000287878.3:n.685-66_685-52del | |
| ENST00000476632.2:c.-39-66_-39-52del | ENSP00000419493.2:n.-39-66_-39-52del | |
| ENST00000487375.2:n.562-66_562-52del | ||
| ENST00000492843.6:c.313-66_313-52del | ENSP00000419577.2:n.313-66_313-52del | |
| ENST00000650858.1:c.-29-36750_-29-36736del | ENSP00000498384.1:n.-29-36750_-29-36736del | |
| ENST00000650948.1:n.800-66_800-52del | ||
| ENST00000651188.1:c.553-36753_553-36739del | ENSP00000498557.1:n.553-36753_553-36739del | |
| ENST00000651303.1:c.553-66_553-52del | ENSP00000498428.1:n.553-66_553-52del | |
| ENST00000651378.1:c.-39-66_-39-52del | ENSP00000499103.1:n.-39-66_-39-52del | |
| ENST00000651764.1:c.553-66_553-52del | ENSP00000498796.1:n.553-66_553-52del | |
| ENST00000651836.1:c.456-66_456-52del | ENSP00000499156.1:n.456-66_456-52del | |
| ENST00000652047.1:c.553-66_553-52del | ENSP00000499111.1:n.553-66_553-52del | |
| ENST00000652136.1:n.421-66_421-52del | ||
| ENST00000652159.1:c.553-66_553-52del | ENSP00000499025.1:n.553-66_553-52del | |
| ENST00000652321.1:c.685-66_685-52del | ENSP00000498886.1:n.685-66_685-52del | |
| ENST00000652397.1:c.-105_-91del | ENSP00000498351.1:n.-105_-91del | |
| ENST00000652707.1:c.553-66_553-52del | ENSP00000498954.1:n.553-66_553-52del | |
| ENST00000287878.8:c.685-66_685-52del | ENSP00000287878.3:n.685-66_685-52del | |
| ENST00000392801.6:c.553-66_553-52del | ENSP00000376549.2:n.553-66_553-52del | |
| ENST00000418337.6:c.-105_-91del | ENSP00000387386.2:n.-105_-91del | |
| ENST00000476632.1:c.-39-66_-39-52del | ENSP00000419493.1:n.-39-66_-39-52del | |
| ENST00000483775.1:n.24_38del | ||
| ENST00000488258.5:c.685-36750_685-36736del | ENSP00000420783.1:n.685-36750_685-36736del | |
| ENST00000492843.5:c.313-66_313-52del | ENSP00000419577.1:n.313-66_313-52del | |
| NM_001040633.1:c.553-66_553-52del | NP_001035723.1:n.553-66_553-52del | |
| NM_001304527.1:c.313-66_313-52del | NP_001291456.1:n.313-66_313-52del | |
| NM_001304531.1:c.-39-66_-39-52del | NP_001291460.1:n.-39-66_-39-52del | |
| NM_016203.3:c.685-66_685-52del | NP_057287.2:n.685-66_685-52del | |
| NM_024429.1:c.-105_-91del | NP_077747.1:n.-105_-91del | |
| XM_005250002.2:c.685-66_685-52del | XP_005250059.1:n.685-66_685-52del | |
| XM_005250004.2:c.553-66_553-52del | XP_005250061.1:n.553-66_553-52del | |
| XM_005250006.3:c.313-66_313-52del | XP_005250063.1:n.313-66_313-52del | |
| XM_006716021.2:c.673-66_673-52del | XP_006716084.1:n.673-66_673-52del | |
| XM_011516282.1:c.673-66_673-52del | XP_011514584.1:n.673-66_673-52del | |
| XM_011516283.1:c.673-66_673-52del | XP_011514585.1:n.673-66_673-52del | |
| XM_011516284.1:c.673-66_673-52del | XP_011514586.1:n.673-66_673-52del | |
| XM_011516285.1:c.-39-66_-39-52del | XP_011514587.1:n.-39-66_-39-52del | |
| XM_011516287.1:c.-29-36750_-29-36736del | XP_011514589.1:n.-29-36750_-29-36736del | |
| NM_001363698.1:c.313-66_313-52del | NP_001350627.1:n.313-66_313-52del | |
| XM_005250002.4:c.685-66_685-52del | XP_005250059.1:n.685-66_685-52del | |
| XM_005250004.4:c.553-66_553-52del | XP_005250061.1:n.553-66_553-52del | |
| XM_005250006.5:c.313-66_313-52del | XP_005250063.1:n.313-66_313-52del | |
| XM_011516285.2:c.-39-66_-39-52del | XP_011514587.1:n.-39-66_-39-52del | |
| XM_017012268.2:c.553-66_553-52del | XP_016867757.1:n.553-66_553-52del | |
| XM_017012269.1:c.685-66_685-52del | XP_016867758.1:n.685-66_685-52del | |
| XM_017012270.1:c.553-66_553-52del | XP_016867759.1:n.553-66_553-52del | |
| XM_017012271.2:c.553-66_553-52del | XP_016867760.1:n.553-66_553-52del | |
| XM_017012272.1:c.553-66_553-52del | XP_016867761.1:n.553-66_553-52del | |
| XM_017012274.2:c.-39-66_-39-52del | XP_016867763.1:n.-39-66_-39-52del | |
| XM_017012275.2:c.-26-36753_-26-36739del | XP_016867764.1:n.-26-36753_-26-36739del | |
| XM_017012276.2:c.-39-66_-39-52del | XP_016867765.1:n.-39-66_-39-52del | |
| XM_017012278.1:c.-29-36750_-29-36736del | XP_016867767.1:n.-29-36750_-29-36736del | |
| XM_017012279.2:c.-29-36750_-29-36736del | XP_016867768.1:n.-29-36750_-29-36736del | |
| XM_017012280.2:c.-26-36753_-26-36739del | XP_016867769.1:n.-26-36753_-26-36739del | |
| XM_017012281.2:c.-26-36753_-26-36739del | XP_016867770.1:n.-26-36753_-26-36739del | |
| XM_024446786.1:c.553-66_553-52del | XP_024302554.1:n.553-66_553-52del | |
| XM_024446787.1:c.-39-66_-39-52del | XP_024302555.1:n.-39-66_-39-52del | |
| XM_024446788.1:c.-39-66_-39-52del | XP_024302556.1:n.-39-66_-39-52del | |
| XM_024446789.1:c.-39-66_-39-52del | XP_024302557.1:n.-39-66_-39-52del | |
| NM_016203.4:c.685-66_685-52del MANE Select | NP_057287.2:n.685-66_685-52del | |
| NM_001040633.2:c.553-66_553-52del | NP_001035723.1:n.553-66_553-52del | |
| NM_001304527.2:c.313-66_313-52del | NP_001291456.1:n.313-66_313-52del | |
| NM_001304531.2:c.-39-66_-39-52del | NP_001291460.1:n.-39-66_-39-52del | |
| NM_001363698.2:c.313-66_313-52del | NP_001350627.1:n.313-66_313-52del | |
| NM_024429.2:c.-105_-91del | NP_077747.1:n.-105_-91del |