Linked Data
dbSNP Id:
rs369026379
gnomAD v4:
7-148807763-G-GACTT
MyVariant Identifiers:
chr7:g.148504855_148504856insACTT (hg19)
chr7:g.148807763_148807764insACTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148807765_148807768dup , CM000669.2:g.148807765_148807768dup | GRCh38 |
| NC_000007.13:g.148504857_148504860dup , CM000669.1:g.148504857_148504860dup | GRCh37 |
| NC_000007.12:g.148135790_148135793dup | NCBI36 |
| NG_032043.1:g.81583_81586dup , LRG_531:g.81583_81586dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682263.1:n.4096-61_4096-58dup | ||
| ENST00000682317.1:c.*1258-61_*1258-58dup | ENSP00000508286.1:n.*1258-61_*1258-58dup | |
| ENST00000683292.1:c.*1092-61_*1092-58dup | ENSP00000507503.1:n.*1092-61_*1092-58dup | |
| ENST00000683293.1:n.3915-61_3915-58dup | ||
| ENST00000683744.1:c.*1258-61_*1258-58dup | ENSP00000506949.1:n.*1258-61_*1258-58dup | |
| ENST00000684300.1:c.*1258-61_*1258-58dup | ENSP00000508407.1:n.*1258-61_*1258-58dup | |
| ENST00000684400.1:n.4183-61_4183-58dup | ||
| ENST00000684436.1:n.2512-61_2512-58dup | ||
| ENST00000684510.1:n.2574-61_2574-58dup | ||
| ENST00000320356.7:c.2196-61_2196-58dup MANE Select | ENSP00000320147.2:n.2196-61_2196-58dup | |
| ENST00000320356.6:c.2196-61_2196-58dup | ENSP00000320147.2:n.2196-61_2196-58dup | |
| ENST00000350995.6:c.2064-61_2064-58dup | ENSP00000223193.2:n.2064-61_2064-58dup | |
| ENST00000460911.5:c.2181-61_2181-58dup | ENSP00000419711.1:n.2181-61_2181-58dup | |
| ENST00000476773.5:c.2028-61_2028-58dup | ENSP00000419050.1:n.2028-61_2028-58dup | |
| ENST00000478654.5:c.2028-61_2028-58dup | ENSP00000417062.1:n.2028-61_2028-58dup | |
| ENST00000483967.5:c.2154-61_2154-58dup | ENSP00000419856.1:n.2154-61_2154-58dup | |
| ENST00000492143.5:c.*2186-61_*2186-58dup | ENSP00000417377.1:n.*2186-61_*2186-58dup | |
| NM_001203247.1:c.2181-61_2181-58dup | NP_001190176.1:n.2181-61_2181-58dup | |
| NM_001203248.1:c.2154-61_2154-58dup | NP_001190177.1:n.2154-61_2154-58dup | |
| NM_001203249.1:c.2028-61_2028-58dup | NP_001190178.1:n.2028-61_2028-58dup | |
| NM_004456.4:c.2196-61_2196-58dup , LRG_531t1:c.2196-61_2196-58dup | NP_004447.2:n.2196-61_2196-58dup | |
| NM_152998.2:c.2064-61_2064-58dup | NP_694543.1:n.2064-61_2064-58dup | |
| XM_005249962.3:c.2205-61_2205-58dup | XP_005250019.1:n.2205-61_2205-58dup | |
| XM_005249963.3:c.2178-61_2178-58dup | XP_005250020.1:n.2178-61_2178-58dup | |
| XM_005249964.3:c.2052-61_2052-58dup | XP_005250021.1:n.2052-61_2052-58dup | |
| XM_011515883.1:c.2220-61_2220-58dup | XP_011514185.1:n.2220-61_2220-58dup | |
| XM_011515884.1:c.2196-61_2196-58dup | XP_011514186.1:n.2196-61_2196-58dup | |
| XM_011515885.1:c.2193-61_2193-58dup | XP_011514187.1:n.2193-61_2193-58dup | |
| XM_011515886.1:c.2172-61_2172-58dup | XP_011514188.1:n.2172-61_2172-58dup | |
| XM_011515887.1:c.2169-61_2169-58dup | XP_011514189.1:n.2169-61_2169-58dup | |
| XM_011515888.1:c.2169-61_2169-58dup | XP_011514190.1:n.2169-61_2169-58dup | |
| XM_011515889.1:c.2130-61_2130-58dup | XP_011514191.1:n.2130-61_2130-58dup | |
| XM_011515890.1:c.2103-61_2103-58dup | XP_011514192.1:n.2103-61_2103-58dup | |
| XM_011515891.1:c.2097-61_2097-58dup | XP_011514193.1:n.2097-61_2097-58dup | |
| XM_011515892.1:c.2094-61_2094-58dup | XP_011514194.1:n.2094-61_2094-58dup | |
| XM_011515893.1:c.2088-61_2088-58dup | XP_011514195.1:n.2088-61_2088-58dup | |
| XM_011515894.1:c.2079-61_2079-58dup | XP_011514196.1:n.2079-61_2079-58dup | |
| XM_011515895.1:c.2076-61_2076-58dup | XP_011514197.1:n.2076-61_2076-58dup | |
| XM_011515896.1:c.1962-61_1962-58dup | XP_011514198.1:n.1962-61_1962-58dup | |
| XM_011515897.1:c.1869-61_1869-58dup | XP_011514199.1:n.1869-61_1869-58dup | |
| XM_011515898.1:c.1869-61_1869-58dup | XP_011514200.1:n.1869-61_1869-58dup | |
| XR_928101.1:n.515+2680_515+2683dup | ||
| XR_928102.1:n.722+2680_722+2683dup | ||
| XM_005249962.4:c.2205-61_2205-58dup | XP_005250019.1:n.2205-61_2205-58dup | |
| XM_005249963.4:c.2178-61_2178-58dup | XP_005250020.1:n.2178-61_2178-58dup | |
| XM_005249964.4:c.2052-61_2052-58dup | XP_005250021.1:n.2052-61_2052-58dup | |
| XM_011515883.2:c.2220-61_2220-58dup | XP_011514185.1:n.2220-61_2220-58dup | |
| XM_011515884.2:c.2196-61_2196-58dup | XP_011514186.1:n.2196-61_2196-58dup | |
| XM_011515885.2:c.2193-61_2193-58dup | XP_011514187.1:n.2193-61_2193-58dup | |
| XM_011515886.2:c.2172-61_2172-58dup | XP_011514188.1:n.2172-61_2172-58dup | |
| XM_011515887.3:c.2169-61_2169-58dup | XP_011514189.1:n.2169-61_2169-58dup | |
| XM_011515888.2:c.2169-61_2169-58dup | XP_011514190.1:n.2169-61_2169-58dup | |
| XM_011515889.2:c.2130-61_2130-58dup | XP_011514191.1:n.2130-61_2130-58dup | |
| XM_011515890.2:c.2103-61_2103-58dup | XP_011514192.1:n.2103-61_2103-58dup | |
| XM_011515891.3:c.2097-61_2097-58dup | XP_011514193.1:n.2097-61_2097-58dup | |
| XM_011515892.2:c.2094-61_2094-58dup | XP_011514194.1:n.2094-61_2094-58dup | |
| XM_011515893.2:c.2088-61_2088-58dup | XP_011514195.1:n.2088-61_2088-58dup | |
| XM_011515894.2:c.2079-61_2079-58dup | XP_011514196.1:n.2079-61_2079-58dup | |
| XM_011515895.2:c.2076-61_2076-58dup | XP_011514197.1:n.2076-61_2076-58dup | |
| XM_011515896.2:c.1962-61_1962-58dup | XP_011514198.1:n.1962-61_1962-58dup | |
| XM_011515897.2:c.1869-61_1869-58dup | XP_011514199.1:n.1869-61_1869-58dup | |
| XM_011515898.2:c.1869-61_1869-58dup | XP_011514200.1:n.1869-61_1869-58dup | |
| XM_017011817.2:c.2220-61_2220-58dup | XP_016867306.1:n.2220-61_2220-58dup | |
| XM_017011818.1:c.2157-61_2157-58dup | XP_016867307.1:n.2157-61_2157-58dup | |
| XM_017011819.1:c.2079-61_2079-58dup | XP_016867308.1:n.2079-61_2079-58dup | |
| XM_017011820.2:c.2052-61_2052-58dup | XP_016867309.1:n.2052-61_2052-58dup | |
| XM_017011821.1:c.1854-61_1854-58dup | XP_016867310.1:n.1854-61_1854-58dup | |
| XM_024446680.1:c.2082-61_2082-58dup | XP_024302448.1:n.2082-61_2082-58dup | |
| XR_001744581.1:n.4570-61_4570-58dup | ||
| XR_002956413.1:n.5226-61_5226-58dup | ||
| XR_002956414.1:n.5686-61_5686-58dup | ||
| NM_001203247.2:c.2181-61_2181-58dup | NP_001190176.1:n.2181-61_2181-58dup | |
| NM_001203248.2:c.2154-61_2154-58dup | NP_001190177.1:n.2154-61_2154-58dup | |
| NM_001203249.2:c.2028-61_2028-58dup | NP_001190178.1:n.2028-61_2028-58dup | |
| NM_004456.5:c.2196-61_2196-58dup MANE Select | NP_004447.2:n.2196-61_2196-58dup | |
| NM_152998.3:c.2064-61_2064-58dup | NP_694543.1:n.2064-61_2064-58dup |