Linked Data
dbSNP Id:
rs1393743980
gnomAD v2:
19-10463319-CCTCTGGG-C
gnomAD v3:
19-10352643-CCTCTGGG-C
gnomAD v4:
19-10352643-CCTCTGGG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10352647_10352653del , CM000681.2:g.10352647_10352653del | GRCh38 |
| NC_000019.9:g.10463323_10463329del , CM000681.1:g.10463323_10463329del | GRCh37 |
| NC_000019.8:g.10324323_10324329del | NCBI36 |
| NG_007872.1:g.32923_32929del , LRG_121:g.32923_32929del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524470.2:c.*1550-99_*1550-93del | ENSP00000514307.1:n.*1550-99_*1550-93del | |
| ENST00000525976.6:c.3201-99_3201-93del | ENSP00000434831.2:n.3201-99_3201-93del | |
| ENST00000527481.3:c.3082-99_3082-93del | ENSP00000466340.2:n.3082-99_3082-93del | |
| ENST00000529370.6:n.4577-99_4577-93del | ||
| ENST00000529739.2:n.4010-99_4010-93del | ||
| ENST00000530829.2:c.*2752-99_*2752-93del | ENSP00000436826.2:n.*2752-99_*2752-93del | |
| ENST00000531836.6:c.3201-99_3201-93del | ENSP00000436175.2:n.3201-99_3201-93del | |
| ENST00000533334.2:c.*1242+276_*1242+282del | ENSP00000432320.2:n.*1242+276_*1242+282del | |
| ENST00000534228.2:n.5054+276_5054+282del | ||
| ENST00000699354.1:n.1303-99_1303-93del | ||
| ENST00000699355.1:c.*2701-99_*2701-93del | ENSP00000514328.1:n.*2701-99_*2701-93del | |
| ENST00000699356.1:n.4010-99_4010-93del | ||
| ENST00000699357.1:n.5055-99_5055-93del | ||
| ENST00000699358.1:c.3200+276_3200+282del | ENSP00000514329.1:n.3200+276_3200+282del | |
| ENST00000699359.1:c.375-99_375-93del | ||
| ENST00000699360.1:c.3159-99_3159-93del | ENSP00000514331.1:n.3159-99_3159-93del | |
| ENST00000699361.1:n.136_142del | ||
| ENST00000699362.1:c.97-99_97-93del | ENSP00000514332.1:n.97-99_97-93del | |
| ENST00000699363.1:c.97-99_97-93del | ENSP00000514333.1:n.97-99_97-93del | |
| ENST00000699364.1:n.201-99_201-93del | ||
| ENST00000699365.1:c.270-99_270-93del | ENSP00000514334.1:n.270-99_270-93del | |
| ENST00000699366.1:n.111+1164_111+1170del | ||
| ENST00000699367.1:n.111+1164_111+1170del | ||
| ENST00000699368.1:c.688-99_688-93del | ENSP00000514335.1:n.688-99_688-93del | |
| ENST00000525621.6:c.3201-99_3201-93del MANE Select | ENSP00000431885.1:n.3201-99_3201-93del | |
| ENST00000264818.10:c.3201-99_3201-93del | ENSP00000264818.6:n.3201-99_3201-93del | |
| ENST00000524462.5:c.2646-99_2646-93del | ENSP00000433203.1:n.2646-99_2646-93del | |
| ENST00000525621.5:c.3201-99_3201-93del | ENSP00000431885.1:n.3201-99_3201-93del | |
| ENST00000527481.2:c.378-99_378-93del | ||
| ENST00000529422.1:n.116+372_116+378del | ||
| ENST00000529739.1:c.270-99_270-93del | ENSP00000436155.1:n.270-99_270-93del | |
| ENST00000530220.1:n.331+276_331+282del | ||
| ENST00000530560.5:c.337+1392_337+1398del | ENSP00000465291.1:n.337+1392_337+1398del | |
| ENST00000592137.1:n.355-99_355-93del | ||
| NM_003331.4:c.3201-99_3201-93del , LRG_121t1:c.3201-99_3201-93del | NP_003322.3:n.3201-99_3201-93del | |
| XM_011528245.1:c.3201-99_3201-93del | XP_011526547.1:n.3201-99_3201-93del | |
| XM_011528246.1:c.2904-99_2904-93del | XP_011526548.1:n.2904-99_2904-93del | |
| XM_011528247.1:c.2904-99_2904-93del | XP_011526549.1:n.2904-99_2904-93del | |
| XM_011528248.1:c.3200+276_3200+282del | XP_011526550.1:n.3200+276_3200+282del | |
| XM_011528249.1:c.1875-99_1875-93del | XP_011526551.1:n.1875-99_1875-93del | |
| XM_011528251.1:c.1458-99_1458-93del | XP_011526553.1:n.1458-99_1458-93del | |
| XM_011528246.3:c.2904-99_2904-93del | XP_011526548.1:n.2904-99_2904-93del | |
| XM_011528249.2:c.1875-99_1875-93del | XP_011526551.1:n.1875-99_1875-93del | |
| XR_001753750.1:n.3357+276_3357+282del | ||
| XR_001753751.1:n.3753-99_3753-93del | ||
| XR_002958353.1:n.4679-99_4679-93del | ||
| NM_003331.5:c.3201-99_3201-93del MANE Select | NP_003322.3:n.3201-99_3201-93del | |
| NM_001385197.1:c.3201-99_3201-93del | NP_001372126.1:n.3201-99_3201-93del | |
| NM_001385198.1:c.3168+308_3168+314del | NP_001372127.1:n.3168+308_3168+314del | |
| NM_001385199.1:c.3015-99_3015-93del | NP_001372128.1:n.3015-99_3015-93del | |
| NM_001385200.1:c.3198-99_3198-93del | NP_001372129.1:n.3198-99_3198-93del | |
| NM_001385201.1:c.3003-99_3003-93del | NP_001372130.1:n.3003-99_3003-93del | |
| NM_001385202.1:c.3117-99_3117-93del | NP_001372131.1:n.3117-99_3117-93del | |
| NM_001385203.1:c.3282-99_3282-93del | NP_001372132.1:n.3282-99_3282-93del | |
| NM_001385204.1:c.3411-99_3411-93del | NP_001372133.1:n.3411-99_3411-93del | |
| NM_001385205.1:c.3111-99_3111-93del | NP_001372134.1:n.3111-99_3111-93del | |
| NM_001385206.1:c.3075-99_3075-93del | NP_001372135.1:n.3075-99_3075-93del | |
| NM_001385207.1:c.3183-99_3183-93del | NP_001372136.1:n.3183-99_3183-93del |