Linked Data
dbSNP Id:
rs774353821
ExAC:
19:36593786 GCTC / G
gnomAD v2:
19-36593786-GCTC-G
gnomAD v3:
19-36102884-GCTC-G
gnomAD v4:
19-36102884-GCTC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.36102888_36102890del , CM000681.2:g.36102888_36102890del | GRCh38 |
| NC_000019.9:g.36593790_36593792del , CM000681.1:g.36593790_36593792del | GRCh37 |
| NC_000019.8:g.41285630_41285632del | NCBI36 |
| NG_028101.1:g.53008_53010del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270301.12:c.3320+37_3320+39del | ENSP00000270301.6:n.3320+37_3320+39del | |
| ENST00000401500.7:c.3335+37_3335+39del MANE Select | ENSP00000384792.1:n.3335+37_3335+39del | |
| ENST00000587391.6:c.*3195+37_*3195+39del | ENSP00000465525.1:n.*3195+37_*3195+39del | |
| ENST00000679357.1:c.1415+37_1415+39del | ||
| ENST00000679598.1:c.100+37_100+39del | ||
| ENST00000679682.1:c.3320+37_3320+39del | ENSP00000506226.1:n.3320+37_3320+39del | |
| ENST00000679714.1:c.3329+37_3329+39del | ENSP00000506627.1:n.3329+37_3329+39del | |
| ENST00000679757.1:c.2984+37_2984+39del | ENSP00000505158.1:n.2984+37_2984+39del | |
| ENST00000679858.1:c.*2717+37_*2717+39del | ENSP00000505655.1:n.*2717+37_*2717+39del | |
| ENST00000680211.1:c.-65+37_-65+39del | ENSP00000506102.1:n.-65+37_-65+39del | |
| ENST00000680280.1:n.622+37_622+39del | ||
| ENST00000680349.1:n.1903+37_1903+39del | ||
| ENST00000680403.1:c.3320+37_3320+39del | ENSP00000505677.1:n.3320+37_3320+39del | |
| ENST00000680564.1:c.3086+37_3086+39del | ENSP00000505582.1:n.3086+37_3086+39del | |
| ENST00000680590.1:c.*1715+37_*1715+39del | ENSP00000505350.1:n.*1715+37_*1715+39del | |
| ENST00000680597.1:c.100+37_100+39del | ||
| ENST00000680739.1:c.350+37_350+39del | ||
| ENST00000680773.1:n.1836+37_1836+39del | ||
| ENST00000680806.1:c.*2638+37_*2638+39del | ENSP00000506418.1:n.*2638+37_*2638+39del | |
| ENST00000680997.1:n.1267+37_1267+39del | ||
| ENST00000681608.1:n.905_907del | ||
| ENST00000681625.1:c.*667+37_*667+39del | ENSP00000505555.1:n.*667+37_*667+39del | |
| ENST00000681648.1:n.634+37_634+39del | ||
| ENST00000270301.11:c.3320+37_3320+39del | ENSP00000270301.6:n.3320+37_3320+39del | |
| ENST00000401500.6:c.3335+37_3335+39del | ENSP00000384792.1:n.3335+37_3335+39del | |
| ENST00000587391.5:c.*3195+37_*3195+39del | ENSP00000465525.1:n.*3195+37_*3195+39del | |
| NM_001083961.1:c.3335+37_3335+39del | NP_001077430.1:n.3335+37_3335+39del | |
| NM_173636.4:c.3320+37_3320+39del | NP_775907.4:n.3320+37_3320+39del | |
| XM_005258809.2:c.3224+37_3224+39del | XP_005258866.1:n.3224+37_3224+39del | |
| XM_011526837.1:c.3320+37_3320+39del | XP_011525139.1:n.3320+37_3320+39del | |
| XM_011526838.1:c.3086+37_3086+39del | XP_011525140.1:n.3086+37_3086+39del | |
| XM_011526839.1:c.2984+37_2984+39del | XP_011525141.1:n.2984+37_2984+39del | |
| XM_011526840.1:c.2327+37_2327+39del | XP_011525142.1:n.2327+37_2327+39del | |
| XM_011526841.1:c.1913+37_1913+39del | XP_011525143.1:n.1913+37_1913+39del | |
| XM_011526842.1:c.1766+37_1766+39del | XP_011525144.1:n.1766+37_1766+39del | |
| XM_011526843.1:c.1082+37_1082+39del | XP_011525145.1:n.1082+37_1082+39del | |
| XM_011526844.1:c.1082+37_1082+39del | XP_011525146.1:n.1082+37_1082+39del | |
| XM_011526840.2:c.2327+37_2327+39del | XP_011525142.1:n.2327+37_2327+39del | |
| XM_011526841.2:c.1913+37_1913+39del | XP_011525143.1:n.1913+37_1913+39del | |
| XM_011526844.2:c.1082+37_1082+39del | XP_011525146.1:n.1082+37_1082+39del | |
| XM_017026665.1:c.3335+37_3335+39del | XP_016882154.1:n.3335+37_3335+39del | |
| NM_001083961.2:c.3335+37_3335+39del MANE Select | NP_001077430.1:n.3335+37_3335+39del | |
| NM_173636.5:c.3320+37_3320+39del | NP_775907.4:n.3320+37_3320+39del |