Linked Data
dbSNP Id:
rs1296210919
gnomAD v2:
5-131729284-AGAGTCCTGG-A
gnomAD v3:
5-132393592-AGAGTCCTGG-A
gnomAD v4:
5-132393592-AGAGTCCTGG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132393596_132393604del , CM000667.2:g.132393596_132393604del | GRCh38 |
| NC_000005.9:g.131729288_131729296del , CM000667.1:g.131729288_131729296del | GRCh37 |
| NC_000005.8:g.131757187_131757195del | NCBI36 |
| NG_008982.1:g.28888_28896del | |
| NG_008982.2:g.28893_28901del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.1292-589_1292-581del | ENSP00000388838.2:n.1292-589_1292-581del | |
| ENST00000435065.7:c.1523-80_1523-72del | ENSP00000402760.2:n.1523-80_1523-72del | |
| ENST00000448810.6:c.*303-80_*303-72del | ENSP00000401860.2:n.*303-80_*303-72del | |
| ENST00000685543.1:n.1592-80_1592-72del | ||
| ENST00000686757.1:c.*615-80_*615-72del | ENSP00000510721.1:n.*615-80_*615-72del | |
| ENST00000686868.1:n.363_371del | ||
| ENST00000687740.1:n.4136-80_4136-72del | ||
| ENST00000688151.1:n.2761-80_2761-72del | ||
| ENST00000689271.1:c.1298-80_1298-72del | ENSP00000510797.1:n.1298-80_1298-72del | |
| ENST00000690900.1:c.*615-80_*615-72del | ENSP00000510703.1:n.*615-80_*615-72del | |
| ENST00000692212.1:n.4591-80_4591-72del | ||
| ENST00000692355.1:c.704-80_704-72del | ||
| ENST00000692413.1:c.1433-80_1433-72del | ENSP00000509374.1:n.1433-80_1433-72del | |
| ENST00000692825.1:c.1519-80_1519-72del | ENSP00000509447.1:n.1519-80_1519-72del | |
| ENST00000693308.1:c.1499-80_1499-72del | ENSP00000509770.1:n.1499-80_1499-72del | |
| ENST00000693763.1:n.2611-80_2611-72del | ||
| ENST00000245407.8:c.1451-80_1451-72del MANE Select | ENSP00000245407.3:n.1451-80_1451-72del | |
| ENST00000245407.7:c.1451-80_1451-72del | ENSP00000245407.3:n.1451-80_1451-72del | |
| ENST00000435065.6:c.1523-80_1523-72del | ENSP00000402760.2:n.1523-80_1523-72del | |
| ENST00000447841.5:c.295-80_295-72del | ||
| ENST00000448810.5:c.713-80_713-72del | ||
| ENST00000461013.5:n.8873-80_8873-72del | ||
| ENST00000475308.1:n.2129-80_2129-72del | ||
| ENST00000479605.5:n.554-80_554-72del | ||
| NM_001308122.1:c.1523-80_1523-72del | NP_001295051.1:n.1523-80_1523-72del | |
| NM_003060.3:c.1451-80_1451-72del | NP_003051.1:n.1451-80_1451-72del | |
| XM_011543590.1:c.833-80_833-72del | XP_011541892.1:n.833-80_833-72del | |
| XR_948290.1:n.1577-80_1577-72del | ||
| XM_011543590.2:c.833-80_833-72del | XP_011541892.1:n.833-80_833-72del | |
| XM_017009778.2:c.923-80_923-72del | XP_016865267.1:n.923-80_923-72del | |
| XR_001742215.1:n.1706-80_1706-72del | ||
| XR_001742216.1:n.1725-80_1725-72del | ||
| XR_427718.2:n.1811-80_1811-72del | ||
| XR_948290.2:n.1577-80_1577-72del | ||
| XR_948291.2:n.1805-80_1805-72del | ||
| NM_003060.4:c.1451-80_1451-72del MANE Select | NP_003051.1:n.1451-80_1451-72del | |
| NM_001308122.2:c.1523-80_1523-72del | NP_001295051.1:n.1523-80_1523-72del |