Linked Data
dbSNP Id:
rs1248943591
gnomAD v2:
16-54027954-GTTAT-G
gnomAD v3:
16-53994042-GTTAT-G
gnomAD v4:
16-53994042-GTTAT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.53994046_53994049del , CM000678.2:g.53994046_53994049del | GRCh38 |
| NC_000016.9:g.54027958_54027961del , CM000678.1:g.54027958_54027961del | GRCh37 |
| NC_000016.8:g.52585459_52585462del | NCBI36 |
| NG_012969.1:g.295084_295087del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000471389.6:c.1364+59937_1364+59940del MANE Select | ENSP00000418823.1:n.1364+59937_1364+59940del | |
| ENST00000563011.2:c.745-45299_745-45296del | ||
| ENST00000612285.2:c.389+59937_389+59940del | ENSP00000490300.1:n.389+59937_389+59940del | |
| ENST00000635892.1:n.214+59937_214+59940del | ||
| ENST00000636491.1:c.1347-14382_1347-14379del | ENSP00000490047.1:n.1347-14382_1347-14379del | |
| ENST00000636992.1:c.1240-19332_1240-19329del | ENSP00000489886.1:n.1240-19332_1240-19329del | |
| ENST00000637562.1:c.1364+59937_1364+59940del | ENSP00000490426.1:n.1364+59937_1364+59940del | |
| ENST00000637845.1:c.1364+59937_1364+59940del | ENSP00000489638.1:n.1364+59937_1364+59940del | |
| ENST00000637969.1:c.1364+59937_1364+59940del | ENSP00000490516.1:n.1364+59937_1364+59940del | |
| ENST00000268349.7:c.97+9092_97+9095del | ENSP00000268349.7:n.97+9092_97+9095del | |
| ENST00000431610.6:c.167+59937_167+59940del | ENSP00000415636.2:n.167+59937_167+59940del | |
| ENST00000460382.5:c.167+59937_167+59940del | ENSP00000417422.1:n.167+59937_167+59940del | |
| ENST00000463855.1:c.230+59937_230+59940del | ENSP00000417843.1:n.230+59937_230+59940del | |
| ENST00000464071.1:c.*523+59937_*523+59940del | ENSP00000418424.1:n.*523+59937_*523+59940del | |
| ENST00000471389.5:c.1364+59937_1364+59940del | ENSP00000418823.1:n.1364+59937_1364+59940del | |
| NM_001080432.2:c.1364+59937_1364+59940del | NP_001073901.1:n.1364+59937_1364+59940del | |
| XM_011523313.1:c.1394+59937_1394+59940del | XP_011521615.1:n.1394+59937_1394+59940del | |
| XM_011523316.1:c.1395-14382_1395-14379del | XP_011521618.1:n.1395-14382_1395-14379del | |
| NM_001363891.1:c.1394+59937_1394+59940del | NP_001350820.1:n.1394+59937_1394+59940del | |
| NM_001363894.1:c.1427+59937_1427+59940del | NP_001350823.1:n.1427+59937_1427+59940del | |
| NM_001363896.1:c.1346+37257_1346+37260del | NP_001350825.1:n.1346+37257_1346+37260del | |
| NM_001363897.1:c.1286+59937_1286+59940del | NP_001350826.1:n.1286+59937_1286+59940del | |
| NM_001363898.1:c.1250+59937_1250+59940del | NP_001350827.1:n.1250+59937_1250+59940del | |
| NM_001363899.1:c.1250+59937_1250+59940del | NP_001350828.1:n.1250+59937_1250+59940del | |
| NM_001363900.1:c.1220+59937_1220+59940del | NP_001350829.1:n.1220+59937_1220+59940del | |
| NM_001363901.1:c.1220+59937_1220+59940del | NP_001350830.1:n.1220+59937_1220+59940del | |
| NM_001363903.1:c.1239+105095_1239+105098del | NP_001350832.1:n.1239+105095_1239+105098del | |
| NM_001363905.1:c.851+59937_851+59940del | NP_001350834.1:n.851+59937_851+59940del | |
| NM_001363988.1:c.*22+37257_*22+37260del | NP_001350917.1:n.*22+37257_*22+37260del | |
| NR_156761.1:n.614+59937_614+59940del | ||
| XM_011523316.3:c.1395-14382_1395-14379del | XP_011521618.1:n.1395-14382_1395-14379del | |
| XM_024450437.1:c.1365-14382_1365-14379del | XP_024306205.1:n.1365-14382_1365-14379del | |
| NM_001080432.3:c.1364+59937_1364+59940del MANE Select | NP_001073901.1:n.1364+59937_1364+59940del |