Linked Data
dbSNP Id:
rs1474785934
gnomAD v2:
3-193380463-GTTCT-G
gnomAD v3:
3-193662674-GTTCT-G
gnomAD v4:
3-193662674-GTTCT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.193662680_193662683del , CM000665.2:g.193662680_193662683del | GRCh38 |
| NC_000003.11:g.193380469_193380472del , CM000665.1:g.193380469_193380472del | GRCh37 |
| NC_000003.10:g.194863163_194863166del | NCBI36 |
| NG_011605.1:g.74537_74540del , LRG_337:g.74537_74540del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361510.8:c.2521-142_2521-139del MANE Select | ENSP00000355324.2:n.2521-142_2521-139del | |
| ENST00000361828.7:c.2356-142_2356-139del | ENSP00000354429.3:n.2356-142_2356-139del | |
| ENST00000361908.8:c.2467-142_2467-139del | ENSP00000354681.3:n.2467-142_2467-139del | |
| ENST00000392436.7:c.2356-142_2356-139del | ENSP00000376231.3:n.2356-142_2356-139del | |
| ENST00000392437.6:c.2410-142_2410-139del | ENSP00000376232.2:n.2410-142_2410-139del | |
| ENST00000642289.1:c.2295-142_2295-139del | ||
| ENST00000642445.1:c.2356-142_2356-139del | ENSP00000495535.1:n.2356-142_2356-139del | |
| ENST00000642593.1:c.*581-142_*581-139del | ENSP00000494273.1:n.*581-142_*581-139del | |
| ENST00000643329.1:c.2038-142_2038-139del | ENSP00000493673.1:n.2038-142_2038-139del | |
| ENST00000643737.1:c.*2437-142_*2437-139del | ENSP00000494210.1:n.*2437-142_*2437-139del | |
| ENST00000644595.1:c.2356-142_2356-139del | ENSP00000494121.1:n.2356-142_2356-139del | |
| ENST00000644629.1:c.1943-142_1943-139del | ||
| ENST00000644841.1:c.*840-142_*840-139del | ENSP00000493988.1:n.*840-142_*840-139del | |
| ENST00000644959.1:c.2350-142_2350-139del | ||
| ENST00000645553.1:c.2371-142_2371-139del | ENSP00000494725.1:n.2371-142_2371-139del | |
| ENST00000646085.1:c.*1834-142_*1834-139del | ENSP00000494509.1:n.*1834-142_*1834-139del | |
| ENST00000646277.1:c.*957-142_*957-139del | ENSP00000495289.1:n.*957-142_*957-139del | |
| ENST00000646544.1:c.1344-142_1344-139del | ||
| ENST00000646699.1:c.2295-142_2295-139del | ||
| ENST00000646793.1:c.2248-142_2248-139del | ENSP00000494512.1:n.2248-142_2248-139del | |
| ENST00000361150.6:c.2359-142_2359-139del | ENSP00000354781.2:n.2359-142_2359-139del | |
| ENST00000361510.6:c.2521-142_2521-139del | ENSP00000355324.2:n.2521-142_2521-139del | |
| ENST00000361715.6:c.2413-142_2413-139del | ENSP00000355311.2:n.2413-142_2413-139del | |
| ENST00000361828.6:c.2410-142_2410-139del | ENSP00000354429.2:n.2410-142_2410-139del | |
| ENST00000361908.7:c.2467-142_2467-139del | ENSP00000354681.3:n.2467-142_2467-139del | |
| ENST00000392438.7:c.2356-142_2356-139del | ENSP00000376233.3:n.2356-142_2356-139del | |
| NM_015560.2:c.2356-142_2356-139del , LRG_337t1:c.2356-142_2356-139del | NP_056375.2:n.2356-142_2356-139del | |
| NM_130831.2:c.2248-142_2248-139del | NP_570844.1:n.2248-142_2248-139del | |
| NM_130832.2:c.2302-142_2302-139del | NP_570845.1:n.2302-142_2302-139del | |
| NM_130833.2:c.2359-142_2359-139del | NP_570846.1:n.2359-142_2359-139del | |
| NM_130834.2:c.2410-142_2410-139del | NP_570847.2:n.2410-142_2410-139del | |
| NM_130835.2:c.2413-142_2413-139del | NP_570848.1:n.2413-142_2413-139del | |
| NM_130836.2:c.2467-142_2467-139del | NP_570849.2:n.2467-142_2467-139del | |
| NM_130837.2:c.2521-142_2521-139del , LRG_337t2:c.2521-142_2521-139del | NP_570850.2:n.2521-142_2521-139del | |
| XM_011512863.1:c.2521-142_2521-139del | XP_011511165.1:n.2521-142_2521-139del | |
| XM_011512864.1:c.2467-142_2467-139del | XP_011511166.1:n.2467-142_2467-139del | |
| XM_011512865.1:c.2410-142_2410-139del | XP_011511167.1:n.2410-142_2410-139del | |
| XM_011512866.1:c.2359-142_2359-139del | XP_011511168.1:n.2359-142_2359-139del | |
| XM_011512867.1:c.2356-142_2356-139del | XP_011511169.1:n.2356-142_2356-139del | |
| XM_011512868.1:c.2248-142_2248-139del | XP_011511170.1:n.2248-142_2248-139del | |
| XR_924835.1:n.582+6242_582+6245del | ||
| NM_001354663.1:c.1987-142_1987-139del | NP_001341592.1:n.1987-142_1987-139del | |
| NM_001354664.1:c.1984-142_1984-139del | NP_001341593.1:n.1984-142_1984-139del | |
| XR_001740158.2:n.2775-142_2775-139del | ||
| XR_001740159.2:n.2610-142_2610-139del | ||
| XR_001741072.1:n.601-2593_601-2590del | ||
| XR_001741074.1:n.475+8130_475+8133del | ||
| XR_924835.2:n.600+6242_600+6245del | ||
| NM_001354663.2:c.1987-142_1987-139del | NP_001341592.1:n.1987-142_1987-139del | |
| NM_001354664.2:c.1984-142_1984-139del | NP_001341593.1:n.1984-142_1984-139del | |
| NM_130831.3:c.2248-142_2248-139del | NP_570844.1:n.2248-142_2248-139del | |
| NM_130832.3:c.2302-142_2302-139del | NP_570845.1:n.2302-142_2302-139del | |
| NM_130834.3:c.2410-142_2410-139del | NP_570847.2:n.2410-142_2410-139del | |
| NM_130836.3:c.2467-142_2467-139del | NP_570849.2:n.2467-142_2467-139del | |
| NM_015560.3:c.2356-142_2356-139del | NP_056375.2:n.2356-142_2356-139del | |
| NM_130833.3:c.2359-142_2359-139del | NP_570846.1:n.2359-142_2359-139del | |
| NM_130835.3:c.2413-142_2413-139del | NP_570848.1:n.2413-142_2413-139del | |
| NM_130837.3:c.2521-142_2521-139del MANE Select | NP_570850.2:n.2521-142_2521-139del |