UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
dbSNP Id:
rs776804271
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.53848937_53848938del , CM000672.2:g.53848937_53848938del | GRCh38 |
| NC_000010.10:g.55608697_55608698del , CM000672.1:g.55608697_55608698del | GRCh37 |
| NC_000010.9:g.55278703_55278704del | NCBI36 |
| NG_009191.2:g.957356_957357del | |
| NG_009191.3:g.1785247_1785248del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000613657.6:c.3842+8239_3842+8240del | ENSP00000482794.1:n.3842+8239_3842+8240de... | |
| ENST00000320301.11:c.3806+8239_3806+8240del MANE Plus Clinical | ENSP00000322604.6:n.3806+8239_3806+8240de... | |
| ENST00000395445.6:c.3827+8239_3827+8240del | ENSP00000378832.2:n.3827+8239_3827+8240de... | |
| ENST00000613657.5:c.3842+8239_3842+8240del | ENSP00000482794.1:n.3842+8239_3842+8240de... | |
| ENST00000642496.1:c.2665+8239_2665+8240del | ||
| ENST00000644397.2:c.3806+8239_3806+8240del MANE Select | ENSP00000495195.1:n.3806+8239_3806+8240de... | |
| ENST00000320301.10:c.3806+8239_3806+8240del | ENSP00000322604.6:n.3806+8239_3806+8240de... | |
| ENST00000361849.7:c.3806+8239_3806+8240del | ENSP00000354950.3:n.3806+8239_3806+8240de... | |
| ENST00000373956.7:c.*1761+8239_*1761+8240del | ENSP00000363067.4:n.*1761+8239_*1761+8240... | |
| ENST00000373957.7:c.3821+8239_3821+8240del | ENSP00000363068.4:n.3821+8239_3821+8240de... | |
| ENST00000373965.6:c.3806+8239_3806+8240del | ENSP00000363076.3:n.3806+8239_3806+8240de... | |
| ENST00000395430.5:c.3806+8239_3806+8240del | ENSP00000378818.1:n.3806+8239_3806+8240de... | |
| ENST00000395432.6:c.3695+8239_3695+8240del | ENSP00000378820.2:n.3695+8239_3695+8240de... | |
| ENST00000395433.5:c.3740+8239_3740+8240del | ENSP00000378821.1:n.3740+8239_3740+8240de... | |
| ENST00000395438.5:c.3806+8239_3806+8240del | ENSP00000378826.2:n.3806+8239_3806+8240de... | |
| ENST00000395440.5:c.1306-39390_1306-39389del | ENSP00000378827.1:n.1306-39390_1306-39389... | |
| ENST00000395442.5:c.1099-39390_1099-39389del | ENSP00000378829.1:n.1099-39390_1099-39389... | |
| ENST00000395445.5:c.3827+8239_3827+8240del | ENSP00000378832.2:n.3827+8239_3827+8240de... | |
| ENST00000395446.5:c.2092-39390_2092-39389del | ENSP00000378833.1:n.2092-39390_2092-39389... | |
| ENST00000409834.5:c.2639+8239_2639+8240del | ENSP00000386693.1:n.2639+8239_2639+8240de... | |
| ENST00000414367.5:c.877-8440_877-8439del | ENSP00000412531.1:n.877-8440_877-8439del | |
| ENST00000414778.5:c.3806+8239_3806+8240del | ENSP00000410304.2:n.3806+8239_3806+8240de... | |
| ENST00000437009.5:c.3593+8239_3593+8240del | ENSP00000412628.2:n.3593+8239_3593+8240de... | |
| ENST00000448885.5:c.*1761+8239_*1761+8240del | ENSP00000412320.1:n.*1761+8239_*1761+8240... | |
| ENST00000463095.2:n.825+8239_825+8240del | ||
| ENST00000495484.5:c.65+8239_65+8240del | ENSP00000480780.1:n.65+8239_65+8240del | |
| ENST00000612394.4:c.3842+8239_3842+8240del | ENSP00000482921.1:n.3842+8239_3842+8240de... | |
| ENST00000613657.4:c.3842+8239_3842+8240del | ENSP00000482794.1:n.3842+8239_3842+8240de... | |
| ENST00000614895.4:c.3821+8239_3821+8240del | ENSP00000478512.1:n.3821+8239_3821+8240de... | |
| ENST00000616114.4:c.3806+8239_3806+8240del | ENSP00000483745.1:n.3806+8239_3806+8240de... | |
| ENST00000617051.4:c.3821+8239_3821+8240del | ENSP00000484703.1:n.3821+8239_3821+8240de... | |
| ENST00000617271.4:c.3806+8239_3806+8240del | ENSP00000478076.1:n.3806+8239_3806+8240de... | |
| ENST00000618301.4:c.32+8239_32+8240del | ENSP00000482780.1:n.32+8239_32+8240del | |
| ENST00000621708.4:c.3821+8239_3821+8240del | ENSP00000484454.1:n.3821+8239_3821+8240de... | |
| ENST00000622048.4:c.3593+8239_3593+8240del | ENSP00000482329.1:n.3593+8239_3593+8240de... | |
| NM_001142763.1:c.3821+8239_3821+8240del | NP_001136235.1:n.3821+8239_3821+8240del | |
| NM_001142764.1:c.3806+8239_3806+8240del | NP_001136236.1:n.3806+8239_3806+8240del | |
| NM_001142765.1:c.3593+8239_3593+8240del | NP_001136237.1:n.3593+8239_3593+8240del | |
| NM_001142766.1:c.3806+8239_3806+8240del | NP_001136238.1:n.3806+8239_3806+8240del | |
| NM_001142767.1:c.3695+8239_3695+8240del | NP_001136239.1:n.3695+8239_3695+8240del | |
| NM_001142768.1:c.3740+8239_3740+8240del | NP_001136240.1:n.3740+8239_3740+8240del | |
| NM_001142769.1:c.3842+8239_3842+8240del | NP_001136241.1:n.3842+8239_3842+8240del | |
| NM_001142770.1:c.3806+8239_3806+8240del | NP_001136242.1:n.3806+8239_3806+8240del | |
| NM_001142771.1:c.3821+8239_3821+8240del | NP_001136243.1:n.3821+8239_3821+8240del | |
| NM_001142772.1:c.3806+8239_3806+8240del | NP_001136244.1:n.3806+8239_3806+8240del | |
| NM_001142773.1:c.3740+8239_3740+8240del | NP_001136245.1:n.3740+8239_3740+8240del | |
| NM_033056.3:c.3806+8239_3806+8240del | NP_149045.3:n.3806+8239_3806+8240del | |
| NM_001142769.2:c.3842+8239_3842+8240del | NP_001136241.1:n.3842+8239_3842+8240del | |
| NM_001142770.2:c.3806+8239_3806+8240del | NP_001136242.1:n.3806+8239_3806+8240del | |
| NM_001354404.1:c.3740+8239_3740+8240del | NP_001341333.1:n.3740+8239_3740+8240del | |
| NM_001354411.1:c.3827+8239_3827+8240del | NP_001341340.1:n.3827+8239_3827+8240del | |
| NM_001354420.1:c.3806+8239_3806+8240del | NP_001341349.1:n.3806+8239_3806+8240del | |
| NM_001354429.1:c.3806+8239_3806+8240del | NP_001341358.1:n.3806+8239_3806+8240del | |
| XM_017016573.2:c.3821+8239_3821+8240del | XP_016872062.1:n.3821+8239_3821+8240del | |
| XR_001747192.2:n.4819+8239_4819+8240del | ||
| XR_001747193.2:n.4819+8239_4819+8240del | ||
| NM_001142763.2:c.3821+8239_3821+8240del | NP_001136235.1:n.3821+8239_3821+8240del | |
| NM_001142764.2:c.3806+8239_3806+8240del | NP_001136236.1:n.3806+8239_3806+8240del | |
| NM_001142765.2:c.3593+8239_3593+8240del | NP_001136237.1:n.3593+8239_3593+8240del | |
| NM_001142766.2:c.3806+8239_3806+8240del | NP_001136238.1:n.3806+8239_3806+8240del | |
| NM_001142768.2:c.3740+8239_3740+8240del | NP_001136240.1:n.3740+8239_3740+8240del | |
| NM_001142769.3:c.3842+8239_3842+8240del | NP_001136241.1:n.3842+8239_3842+8240del | |
| NM_001142770.3:c.3806+8239_3806+8240del | NP_001136242.1:n.3806+8239_3806+8240del | |
| NM_001142771.2:c.3821+8239_3821+8240del | NP_001136243.1:n.3821+8239_3821+8240del | |
| NM_001142772.2:c.3806+8239_3806+8240del | NP_001136244.1:n.3806+8239_3806+8240del | |
| NM_001142773.2:c.3740+8239_3740+8240del | NP_001136245.1:n.3740+8239_3740+8240del | |
| NM_001354411.2:c.3827+8239_3827+8240del | NP_001341340.1:n.3827+8239_3827+8240del | |
| NM_001354420.2:c.3806+8239_3806+8240del | NP_001341349.1:n.3806+8239_3806+8240del | |
| NM_001354429.2:c.3806+8239_3806+8240del | NP_001341358.1:n.3806+8239_3806+8240del | |
| NM_033056.4:c.3806+8239_3806+8240del MANE Plus Clinical | NP_149045.3:n.3806+8239_3806+8240del | |
| NM_001142767.2:c.3695+8239_3695+8240del | NP_001136239.1:n.3695+8239_3695+8240del | |
| NM_001354404.2:c.3740+8239_3740+8240del | NP_001341333.1:n.3740+8239_3740+8240del | |
| NM_001384140.1:c.3806+8239_3806+8240del MANE Select | NP_001371069.1:n.3806+8239_3806+8240del |