Linked Data
dbSNP Id:
rs1429096157
gnomAD v2:
1-161643701-GAGGTGGGACA-G
gnomAD v3:
1-161673911-GAGGTGGGACA-G
gnomAD v4:
1-161673911-GAGGTGGGACA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161673915_161673924del , CM000663.2:g.161673915_161673924del | GRCh38 |
| NC_000001.10:g.161643705_161643714del , CM000663.1:g.161643705_161643714del | GRCh37 |
| NC_000001.9:g.159910329_159910338del | NCBI36 |
| NG_023318.1:g.15801_15810del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000358671.10:c.647-45_647-36del MANE Select | ENSP00000351497.5:n.647-45_647-36del | |
| ENST00000236937.13:c.647-45_647-36del | ENSP00000236937.9:n.647-45_647-36del | |
| ENST00000358671.9:c.647-45_647-36del | ENSP00000351497.5:n.647-45_647-36del | |
| ENST00000367961.8:c.626-45_626-36del | ENSP00000356938.4:n.626-45_626-36del | |
| ENST00000428605.3:c.647-45_647-36del | ENSP00000404329.3:n.647-45_647-36del | |
| ENST00000480308.5:n.697-45_697-36del | ||
| ENST00000485778.1:n.2015-45_2015-36del | ||
| NM_001002273.2:c.644-45_644-36del | NP_001002273.1:n.644-45_644-36del | |
| NM_001002274.2:c.647-45_647-36del | NP_001002274.1:n.647-45_647-36del | |
| NM_001002275.2:c.644-45_644-36del | NP_001002275.1:n.644-45_644-36del | |
| NM_001190828.1:c.626-45_626-36del | NP_001177757.1:n.626-45_626-36del | |
| NM_004001.4:c.647-45_647-36del | NP_003992.3:n.647-45_647-36del | |
| XM_017000670.2:c.644-45_644-36del | XP_016856159.1:n.644-45_644-36del | |
| XM_024454043.1:c.647-45_647-36del | XP_024309811.1:n.647-45_647-36del | |
| XM_024454044.1:c.644-45_644-36del | XP_024309812.1:n.644-45_644-36del | |
| XM_024454045.1:c.644-45_644-36del | XP_024309813.1:n.644-45_644-36del | |
| NM_001002273.3:c.644-45_644-36del | NP_001002273.1:n.644-45_644-36del | |
| NM_001002274.3:c.647-45_647-36del | NP_001002274.1:n.647-45_647-36del | |
| NM_001002275.3:c.644-45_644-36del | NP_001002275.1:n.644-45_644-36del | |
| NM_001190828.2:c.626-45_626-36del | NP_001177757.1:n.626-45_626-36del | |
| NM_001386000.1:c.623-45_623-36del | NP_001372929.1:n.623-45_623-36del | |
| NM_001386001.1:c.626-45_626-36del | NP_001372930.1:n.626-45_626-36del | |
| NM_001386002.1:c.623-45_623-36del | NP_001372931.1:n.623-45_623-36del | |
| NM_001386003.1:c.647-45_647-36del | NP_001372932.1:n.647-45_647-36del | |
| NM_001386004.1:c.623-45_623-36del | NP_001372933.1:n.623-45_623-36del | |
| NM_001386005.1:c.647-45_647-36del | NP_001372934.1:n.647-45_647-36del | |
| NM_001386006.1:c.626-45_626-36del | NP_001372935.1:n.626-45_626-36del | |
| NM_004001.5:c.647-45_647-36del | NP_003992.3:n.647-45_647-36del | |
| NR_169827.1:n.876-45_876-36del | ||
| NM_001394477.1:c.647-45_647-36del MANE Select | NP_001381406.1:n.647-45_647-36del |