Linked Data
dbSNP Id:
rs35866517
gnomAD v2:
7-148504906-TAAAA-T
gnomAD v3:
7-148807814-TAAAA-T
gnomAD v4:
7-148807814-TAAAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148807833_148807836del , CM000669.2:g.148807833_148807836del | GRCh38 |
| NC_000007.13:g.148504925_148504928del , CM000669.1:g.148504925_148504928del | GRCh37 |
| NC_000007.12:g.148135858_148135861del | NCBI36 |
| NG_032043.1:g.81532_81535del , LRG_531:g.81532_81535del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682263.1:n.4096-112_4096-109del | ||
| ENST00000682317.1:c.*1258-112_*1258-109del | ENSP00000508286.1:n.*1258-112_*1258-109del | |
| ENST00000683292.1:c.*1092-112_*1092-109del | ENSP00000507503.1:n.*1092-112_*1092-109del | |
| ENST00000683293.1:n.3915-112_3915-109del | ||
| ENST00000683744.1:c.*1258-112_*1258-109del | ENSP00000506949.1:n.*1258-112_*1258-109del | |
| ENST00000684300.1:c.*1258-112_*1258-109del | ENSP00000508407.1:n.*1258-112_*1258-109del | |
| ENST00000684400.1:n.4183-112_4183-109del | ||
| ENST00000684436.1:n.2512-112_2512-109del | ||
| ENST00000684510.1:n.2574-112_2574-109del | ||
| ENST00000320356.7:c.2196-112_2196-109del MANE Select | ENSP00000320147.2:n.2196-112_2196-109del | |
| ENST00000320356.6:c.2196-112_2196-109del | ENSP00000320147.2:n.2196-112_2196-109del | |
| ENST00000350995.6:c.2064-112_2064-109del | ENSP00000223193.2:n.2064-112_2064-109del | |
| ENST00000460911.5:c.2181-112_2181-109del | ENSP00000419711.1:n.2181-112_2181-109del | |
| ENST00000476773.5:c.2028-112_2028-109del | ENSP00000419050.1:n.2028-112_2028-109del | |
| ENST00000478654.5:c.2028-112_2028-109del | ENSP00000417062.1:n.2028-112_2028-109del | |
| ENST00000483967.5:c.2154-112_2154-109del | ENSP00000419856.1:n.2154-112_2154-109del | |
| ENST00000492143.5:c.*2186-112_*2186-109del | ENSP00000417377.1:n.*2186-112_*2186-109del | |
| NM_001203247.1:c.2181-112_2181-109del | NP_001190176.1:n.2181-112_2181-109del | |
| NM_001203248.1:c.2154-112_2154-109del | NP_001190177.1:n.2154-112_2154-109del | |
| NM_001203249.1:c.2028-112_2028-109del | NP_001190178.1:n.2028-112_2028-109del | |
| NM_004456.4:c.2196-112_2196-109del , LRG_531t1:c.2196-112_2196-109del | NP_004447.2:n.2196-112_2196-109del | |
| NM_152998.2:c.2064-112_2064-109del | NP_694543.1:n.2064-112_2064-109del | |
| XM_005249962.3:c.2205-112_2205-109del | XP_005250019.1:n.2205-112_2205-109del | |
| XM_005249963.3:c.2178-112_2178-109del | XP_005250020.1:n.2178-112_2178-109del | |
| XM_005249964.3:c.2052-112_2052-109del | XP_005250021.1:n.2052-112_2052-109del | |
| XM_011515883.1:c.2220-112_2220-109del | XP_011514185.1:n.2220-112_2220-109del | |
| XM_011515884.1:c.2196-112_2196-109del | XP_011514186.1:n.2196-112_2196-109del | |
| XM_011515885.1:c.2193-112_2193-109del | XP_011514187.1:n.2193-112_2193-109del | |
| XM_011515886.1:c.2172-112_2172-109del | XP_011514188.1:n.2172-112_2172-109del | |
| XM_011515887.1:c.2169-112_2169-109del | XP_011514189.1:n.2169-112_2169-109del | |
| XM_011515888.1:c.2169-112_2169-109del | XP_011514190.1:n.2169-112_2169-109del | |
| XM_011515889.1:c.2130-112_2130-109del | XP_011514191.1:n.2130-112_2130-109del | |
| XM_011515890.1:c.2103-112_2103-109del | XP_011514192.1:n.2103-112_2103-109del | |
| XM_011515891.1:c.2097-112_2097-109del | XP_011514193.1:n.2097-112_2097-109del | |
| XM_011515892.1:c.2094-112_2094-109del | XP_011514194.1:n.2094-112_2094-109del | |
| XM_011515893.1:c.2088-112_2088-109del | XP_011514195.1:n.2088-112_2088-109del | |
| XM_011515894.1:c.2079-112_2079-109del | XP_011514196.1:n.2079-112_2079-109del | |
| XM_011515895.1:c.2076-112_2076-109del | XP_011514197.1:n.2076-112_2076-109del | |
| XM_011515896.1:c.1962-112_1962-109del | XP_011514198.1:n.1962-112_1962-109del | |
| XM_011515897.1:c.1869-112_1869-109del | XP_011514199.1:n.1869-112_1869-109del | |
| XM_011515898.1:c.1869-112_1869-109del | XP_011514200.1:n.1869-112_1869-109del | |
| XR_928101.1:n.515+2748_515+2751del | ||
| XR_928102.1:n.722+2748_722+2751del | ||
| XM_005249962.4:c.2205-112_2205-109del | XP_005250019.1:n.2205-112_2205-109del | |
| XM_005249963.4:c.2178-112_2178-109del | XP_005250020.1:n.2178-112_2178-109del | |
| XM_005249964.4:c.2052-112_2052-109del | XP_005250021.1:n.2052-112_2052-109del | |
| XM_011515883.2:c.2220-112_2220-109del | XP_011514185.1:n.2220-112_2220-109del | |
| XM_011515884.2:c.2196-112_2196-109del | XP_011514186.1:n.2196-112_2196-109del | |
| XM_011515885.2:c.2193-112_2193-109del | XP_011514187.1:n.2193-112_2193-109del | |
| XM_011515886.2:c.2172-112_2172-109del | XP_011514188.1:n.2172-112_2172-109del | |
| XM_011515887.3:c.2169-112_2169-109del | XP_011514189.1:n.2169-112_2169-109del | |
| XM_011515888.2:c.2169-112_2169-109del | XP_011514190.1:n.2169-112_2169-109del | |
| XM_011515889.2:c.2130-112_2130-109del | XP_011514191.1:n.2130-112_2130-109del | |
| XM_011515890.2:c.2103-112_2103-109del | XP_011514192.1:n.2103-112_2103-109del | |
| XM_011515891.3:c.2097-112_2097-109del | XP_011514193.1:n.2097-112_2097-109del | |
| XM_011515892.2:c.2094-112_2094-109del | XP_011514194.1:n.2094-112_2094-109del | |
| XM_011515893.2:c.2088-112_2088-109del | XP_011514195.1:n.2088-112_2088-109del | |
| XM_011515894.2:c.2079-112_2079-109del | XP_011514196.1:n.2079-112_2079-109del | |
| XM_011515895.2:c.2076-112_2076-109del | XP_011514197.1:n.2076-112_2076-109del | |
| XM_011515896.2:c.1962-112_1962-109del | XP_011514198.1:n.1962-112_1962-109del | |
| XM_011515897.2:c.1869-112_1869-109del | XP_011514199.1:n.1869-112_1869-109del | |
| XM_011515898.2:c.1869-112_1869-109del | XP_011514200.1:n.1869-112_1869-109del | |
| XM_017011817.2:c.2220-112_2220-109del | XP_016867306.1:n.2220-112_2220-109del | |
| XM_017011818.1:c.2157-112_2157-109del | XP_016867307.1:n.2157-112_2157-109del | |
| XM_017011819.1:c.2079-112_2079-109del | XP_016867308.1:n.2079-112_2079-109del | |
| XM_017011820.2:c.2052-112_2052-109del | XP_016867309.1:n.2052-112_2052-109del | |
| XM_017011821.1:c.1854-112_1854-109del | XP_016867310.1:n.1854-112_1854-109del | |
| XM_024446680.1:c.2082-112_2082-109del | XP_024302448.1:n.2082-112_2082-109del | |
| XR_001744581.1:n.4570-112_4570-109del | ||
| XR_002956413.1:n.5226-112_5226-109del | ||
| XR_002956414.1:n.5686-112_5686-109del | ||
| NM_001203247.2:c.2181-112_2181-109del | NP_001190176.1:n.2181-112_2181-109del | |
| NM_001203248.2:c.2154-112_2154-109del | NP_001190177.1:n.2154-112_2154-109del | |
| NM_001203249.2:c.2028-112_2028-109del | NP_001190178.1:n.2028-112_2028-109del | |
| NM_004456.5:c.2196-112_2196-109del MANE Select | NP_004447.2:n.2196-112_2196-109del | |
| NM_152998.3:c.2064-112_2064-109del | NP_694543.1:n.2064-112_2064-109del |