Linked Data
dbSNP Id:
rs773487500
ExAC:
22:32289563 CAT / C
gnomAD v2:
22-32289563-CAT-C
gnomAD v4:
22-31893577-CAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.31893579_31893580del , CM000684.2:g.31893579_31893580del | GRCh38 |
| NC_000022.10:g.32289565_32289566del , CM000684.1:g.32289565_32289566del | GRCh37 |
| NC_000022.9:g.30619565_30619566del | NCBI36 |
| NG_034067.1:g.144629_144630del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382112.8:c.4034-3_4034-2del | ENSP00000371546.4:n.4034-3_4034-2del | |
| ENST00000400246.7:c.3734-3_3734-2del | ENSP00000383105.3:n.3734-3_3734-2del | |
| ENST00000400248.7:c.3941-3_3941-2del | ENSP00000383107.1:n.3941-3_3941-2del | |
| ENST00000400249.7:c.3968-3_3968-2del | ENSP00000383108.3:n.3968-3_3968-2del | |
| ENST00000433147.2:c.3950-3_3950-2del | ENSP00000410544.2:n.3950-3_3950-2del | |
| ENST00000448753.6:c.1981-3_1981-2del | ENSP00000402173.1:n.1981-3_1981-2del | |
| ENST00000479261.2:n.917-3_917-2del | ||
| ENST00000535622.6:c.3734-3_3734-2del | ENSP00000440210.1:n.3734-3_3734-2del | |
| ENST00000642212.1:n.756-3_756-2del | ||
| ENST00000642684.1:c.*3656-3_*3656-2del | ENSP00000494554.1:n.*3656-3_*3656-2del | |
| ENST00000642696.1:c.3941-3_3941-2del | ENSP00000495917.1:n.3941-3_3941-2del | |
| ENST00000642771.1:c.*2045-3_*2045-2del | ENSP00000496278.1:n.*2045-3_*2045-2del | |
| ENST00000642915.1:n.744-3_744-2del | ||
| ENST00000642956.1:n.774-3_774-2del | ||
| ENST00000643021.1:n.993-3_993-2del | ||
| ENST00000643097.1:n.965-3_965-2del | ||
| ENST00000643395.1:c.*1-3_*1-2del | ENSP00000496630.1:n.*1-3_*1-2del | |
| ENST00000643751.2:c.*150-3_*150-2del | ENSP00000495496.1:n.*150-3_*150-2del | |
| ENST00000644162.1:c.*2662-3_*2662-2del | ENSP00000495371.1:n.*2662-3_*2662-2del | |
| ENST00000644331.1:c.3968-3_3968-2del | ENSP00000494406.1:n.3968-3_3968-2del | |
| ENST00000644690.1:n.973-3_973-2del | ||
| ENST00000645407.1:c.3992-3_3992-2del | ENSP00000496252.1:n.3992-3_3992-2del | |
| ENST00000645494.1:c.*2018-3_*2018-2del | ENSP00000495338.1:n.*2018-3_*2018-2del | |
| ENST00000645547.1:c.837-3_837-2del | ENSP00000496023.1:n.837-3_837-2del | |
| ENST00000645560.1:c.3800-3_3800-2del | ENSP00000495544.1:n.3800-3_3800-2del | |
| ENST00000645711.1:c.4007-3_4007-2del | ENSP00000493489.1:n.4007-3_4007-2del | |
| ENST00000645755.1:c.*2840-3_*2840-2del | ENSP00000495873.1:n.*2840-3_*2840-2del | |
| ENST00000646135.1:n.1506-3_1506-2del | ||
| ENST00000646383.1:n.876-3_876-2del | ||
| ENST00000646465.1:c.3800-3_3800-2del | ENSP00000495655.1:n.3800-3_3800-2del | |
| ENST00000646515.1:c.*520-3_*520-2del | ENSP00000494700.1:n.*520-3_*520-2del | |
| ENST00000646701.1:c.1787-62560_1787-62559del | ENSP00000496158.1:n.1787-62560_1787-62559del | |
| ENST00000646830.1:n.899-3_899-2del | ||
| ENST00000646969.1:c.3800-3_3800-2del | ENSP00000496724.1:n.3800-3_3800-2del | |
| ENST00000646998.1:c.*1-3_*1-2del | ENSP00000494662.1:n.*1-3_*1-2del | |
| ENST00000647343.1:c.3950-3_3950-2del | ENSP00000494879.1:n.3950-3_3950-2del | |
| ENST00000651528.2:c.4034-3_4034-2del MANE Select | ENSP00000498382.1:n.4034-3_4034-2del | |
| ENST00000382111.6:c.4034-3_4034-2del | ENSP00000371545.2:n.4034-3_4034-2del | |
| ENST00000382112.7:c.4007-3_4007-2del | ENSP00000371546.3:n.4007-3_4007-2del | |
| ENST00000400246.5:c.4034-3_4034-2del | ENSP00000383105.2:n.4034-3_4034-2del | |
| ENST00000400248.6:c.3941-3_3941-2del | ENSP00000383107.1:n.3941-3_3941-2del | |
| ENST00000400249.6:c.3941-3_3941-2del | ENSP00000383108.2:n.3941-3_3941-2del | |
| ENST00000433147.1:c.2160-3_2160-2del | ||
| ENST00000448753.5:c.1981-3_1981-2del | ENSP00000402173.1:n.1981-3_1981-2del | |
| ENST00000535622.5:c.3734-3_3734-2del | ENSP00000440210.1:n.3734-3_3734-2del | |
| NM_001136029.2:c.4007-3_4007-2del | NP_001129501.1:n.4007-3_4007-2del | |
| NM_001242896.1:c.4034-3_4034-2del | NP_001229825.1:n.4034-3_4034-2del | |
| NM_001242897.1:c.3734-3_3734-2del | NP_001229826.1:n.3734-3_3734-2del | |
| NM_014662.4:c.3941-3_3941-2del | NP_055477.1:n.3941-3_3941-2del | |
| NR_110988.1:n.3827-3_3827-2del | ||
| XM_005261862.1:c.4034-3_4034-2del | XP_005261919.1:n.4034-3_4034-2del | |
| XM_011530557.1:c.4007-3_4007-2del | XP_011528859.1:n.4007-3_4007-2del | |
| XM_011530558.1:c.3968-3_3968-2del | XP_011528860.1:n.3968-3_3968-2del | |
| XM_011530559.1:c.3941-3_3941-2del | XP_011528861.1:n.3941-3_3941-2del | |
| XM_011530560.1:c.3800-3_3800-2del | XP_011528862.1:n.3800-3_3800-2del | |
| XM_011530561.1:c.3773-3_3773-2del | XP_011528863.1:n.3773-3_3773-2del | |
| XM_011530562.1:c.4034-3_4034-2del | XP_011528864.1:n.4034-3_4034-2del | |
| XM_011530563.1:c.3734-3_3734-2del | XP_011528865.1:n.3734-3_3734-2del | |
| XM_011530564.1:c.4034-3_4034-2del | XP_011528866.1:n.4034-3_4034-2del | |
| XM_011530565.1:c.*1-3_*1-2del | XP_011528867.1:n.*1-3_*1-2del | |
| XM_011530569.1:c.1928-3_1928-2del | XP_011528871.1:n.1928-3_1928-2del | |
| XR_937972.1:n.4301-3_4301-2del | ||
| XR_937973.1:n.3888-3_3888-2del | ||
| NM_001136029.3:c.4007-3_4007-2del | NP_001129501.1:n.4007-3_4007-2del | |
| NM_001242896.2:c.4034-3_4034-2del | NP_001229825.1:n.4034-3_4034-2del | |
| NM_001363852.1:c.3968-3_3968-2del | NP_001350781.1:n.3968-3_3968-2del | |
| NM_001363854.1:c.3800-3_3800-2del | NP_001350783.1:n.3800-3_3800-2del | |
| NM_001364318.1:c.4034-3_4034-2del | NP_001351247.1:n.4034-3_4034-2del | |
| NM_001364319.1:c.3800-3_3800-2del | NP_001351248.1:n.3800-3_3800-2del | |
| NM_001364320.1:c.3968-3_3968-2del | NP_001351249.1:n.3968-3_3968-2del | |
| NM_014662.5:c.3941-3_3941-2del | NP_055477.1:n.3941-3_3941-2del | |
| NR_110988.2:n.3831-3_3831-2del | ||
| NR_146296.1:n.4223-3_4223-2del | ||
| NR_157125.1:n.3931-3_3931-2del | ||
| NR_157126.1:n.3803-3_3803-2del | ||
| NR_157128.1:n.4065-3_4065-2del | ||
| XM_011530557.2:c.4007-3_4007-2del | XP_011528859.1:n.4007-3_4007-2del | |
| XM_011530559.2:c.3941-3_3941-2del | XP_011528861.1:n.3941-3_3941-2del | |
| XM_011530561.2:c.3773-3_3773-2del | XP_011528863.1:n.3773-3_3773-2del | |
| XM_011530562.2:c.4034-3_4034-2del | XP_011528864.1:n.4034-3_4034-2del | |
| XM_011530563.2:c.3734-3_3734-2del | XP_011528865.1:n.3734-3_3734-2del | |
| XM_011530565.2:c.*1-3_*1-2del | XP_011528867.1:n.*1-3_*1-2del | |
| XM_011530569.2:c.1928-3_1928-2del | XP_011528871.1:n.1928-3_1928-2del | |
| XM_024452305.1:c.1901-3_1901-2del | XP_024308073.1:n.1901-3_1901-2del | |
| XR_001755389.1:n.4243-3_4243-2del | ||
| XR_001755390.1:n.4313-3_4313-2del | ||
| XR_937973.2:n.3900-3_3900-2del | ||
| NM_001242896.3:c.4034-3_4034-2del MANE Select | NP_001229825.1:n.4034-3_4034-2del | |
| NM_001242897.2:c.3734-3_3734-2del | NP_001229826.1:n.3734-3_3734-2del | |
| NM_001363852.2:c.3968-3_3968-2del | NP_001350781.1:n.3968-3_3968-2del | |
| NM_001363854.2:c.3800-3_3800-2del | NP_001350783.1:n.3800-3_3800-2del | |
| NM_001369901.1:c.3950-3_3950-2del | NP_001356830.1:n.3950-3_3950-2del | |
| NM_001369902.1:c.3950-3_3950-2del | NP_001356831.1:n.3950-3_3950-2del | |
| NM_001369903.1:c.3941-3_3941-2del | NP_001356832.1:n.3941-3_3941-2del | |
| NR_146296.2:n.4206-3_4206-2del | ||
| NM_001136029.4:c.4007-3_4007-2del | NP_001129501.1:n.4007-3_4007-2del | |
| NM_001364318.2:c.4034-3_4034-2del | NP_001351247.1:n.4034-3_4034-2del | |
| NM_001364319.2:c.3800-3_3800-2del | NP_001351248.1:n.3800-3_3800-2del | |
| NM_001364320.2:c.3968-3_3968-2del | NP_001351249.1:n.3968-3_3968-2del | |
| NM_014662.6:c.3941-3_3941-2del | NP_055477.1:n.3941-3_3941-2del | |
| NR_157125.2:n.3931-3_3931-2del | ||
| NR_157126.2:n.3803-3_3803-2del |