WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.127921840_127921841delinsAG , CM000666.2:g.127921840_127921841delinsAG | GRCh38 |
| NC_000004.11:g.128842995_128842996delinsAG , CM000666.1:g.128842995_128842996delinsAG | GRCh37 |
| NC_000004.10:g.129062445_129062446delinsAG | NCBI36 |
| NG_008657.1:g.49144_49145delinsCT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296468.8:c.1102+19_1102+20delinsCT | ENSP00000296468.3:n.1102+19_1102+20delins... | |
| ENST00000509826.2:c.*354_*355delinsCT | ENSP00000421176.2:n.*354_*355delinsCT | |
| ENST00000513559.6:c.820+19_820+20delinsCT | ENSP00000425000.2:n.820+19_820+20delinsCT... | |
| ENST00000515130.6:c.864-70_864-69delinsCT | ENSP00000493056.1:n.864-70_864-69delinsCT... | |
| ENST00000641025.1:c.999-70_999-69delinsCT | ENSP00000493346.1:n.999-70_999-69delinsCT... | |
| ENST00000641092.1:c.798-70_798-69delinsCT | ENSP00000493392.1:n.798-70_798-69delinsCT... | |
| ENST00000641133.1:c.*416+19_*416+20delinsCT | ENSP00000493192.1:n.*416+19_*416+20delins... | |
| ENST00000641146.1:n.968+19_968+20delinsCT | ||
| ENST00000641147.1:c.652+19_652+20delinsCT | ENSP00000493133.1:n.652+19_652+20delinsCT... | |
| ENST00000641178.1:c.967+19_967+20delinsCT | ENSP00000492989.1:n.967+19_967+20delinsCT... | |
| ENST00000641186.1:c.988+19_988+20delinsCT | ENSP00000493347.1:n.988+19_988+20delinsCT... | |
| ENST00000641228.1:c.798-70_798-69delinsCT | ENSP00000493194.1:n.798-70_798-69delinsCT... | |
| ENST00000641332.1:c.*164-70_*164-69delinsCT | ENSP00000493397.1:n.*164-70_*164-69delins... | |
| ENST00000641340.1:c.*232-70_*232-69delinsCT | ENSP00000493191.1:n.*232-70_*232-69delins... | |
| ENST00000641388.1:n.350-70_350-69delinsCT | ||
| ENST00000641393.1:c.652+19_652+20delinsCT | ENSP00000493197.1:n.652+19_652+20delinsCT... | |
| ENST00000641397.1:c.684-70_684-69delinsCT | ENSP00000493406.1:n.684-70_684-69delinsCT... | |
| ENST00000641413.1:c.28-70_28-69delinsCT | ||
| ENST00000641434.1:c.1102+19_1102+20delinsCT | ENSP00000493279.1:n.1102+19_1102+20delins... | |
| ENST00000641464.1:c.*335+19_*335+20delinsCT | ENSP00000493438.1:n.*335+19_*335+20delins... | |
| ENST00000641482.1:c.999-70_999-69delinsCT | ENSP00000493277.1:n.999-70_999-69delinsCT... | |
| ENST00000641508.1:c.*335+19_*335+20delinsCT | ENSP00000493209.1:n.*335+19_*335+20delins... | |
| ENST00000641509.1:c.787+19_787+20delinsCT | ENSP00000493459.1:n.787+19_787+20delinsCT... | |
| ENST00000641590.1:c.885-70_885-69delinsCT | ENSP00000493132.1:n.885-70_885-69delinsCT... | |
| ENST00000641658.1:c.*267+19_*267+20delinsCT | ENSP00000492987.1:n.*267+19_*267+20delins... | |
| ENST00000641686.2:c.1102+19_1102+20delinsCT MANE Select | ENSP00000493218.2:n.1102+19_1102+20delins... | |
| ENST00000641690.1:c.901+19_901+20delinsCT | ENSP00000492966.1:n.901+19_901+20delinsCT... | |
| ENST00000641742.1:c.*267+19_*267+20delinsCT | ENSP00000493315.1:n.*267+19_*267+20delins... | |
| ENST00000641748.1:c.1102+19_1102+20delinsCT | ENSP00000493330.1:n.1102+19_1102+20delins... | |
| ENST00000641753.1:c.929+19_929+20delinsCT | ||
| ENST00000641774.1:c.*354+19_*354+20delinsCT | ENSP00000492960.1:n.*354+19_*354+20delins... | |
| ENST00000641830.1:c.335-70_335-69delinsCT | ||
| ENST00000641843.1:c.*164-70_*164-69delinsCT | ENSP00000493174.1:n.*164-70_*164-69delins... | |
| ENST00000641869.1:c.304-70_304-69delinsCT | ||
| ENST00000641870.1:c.*164-70_*164-69delinsCT | ENSP00000493044.1:n.*164-70_*164-69delins... | |
| ENST00000641882.1:c.*267+19_*267+20delinsCT | ENSP00000493301.1:n.*267+19_*267+20delins... | |
| ENST00000641928.1:c.*232-70_*232-69delinsCT | ENSP00000493418.1:n.*232-70_*232-69delins... | |
| ENST00000641949.1:c.554-1005_554-1004delinsCT | ENSP00000492891.1:n.554-1005_554-1004deli... | |
| ENST00000642012.1:n.966+19_966+20delinsCT | ||
| ENST00000642034.1:c.885-70_885-69delinsCT | ENSP00000493285.1:n.885-70_885-69delinsCT... | |
| ENST00000642042.1:c.1102+19_1102+20delinsCT | ENSP00000493260.1:n.1102+19_1102+20delins... | |
| ENST00000642078.1:c.*164-70_*164-69delinsCT | ENSP00000492885.1:n.*164-70_*164-69delins... | |
| ENST00000296468.7:c.1102+19_1102+20delinsCT | ENSP00000296468.3:n.1102+19_1102+20delins... | |
| ENST00000504126.1:n.130+19_130+20delinsCT | ||
| ENST00000505284.5:n.894-70_894-69delinsCT | ||
| ENST00000513559.5:c.967+19_967+20delinsCT | ENSP00000425000.1:n.967+19_967+20delinsCT... | |
| ENST00000515130.5:n.1445-70_1445-69delinsCT | ||
| NM_152778.2:c.1102+19_1102+20delinsCT | NP_689991.1:n.1102+19_1102+20delinsCT | |
| XM_005262893.1:c.1102+19_1102+20delinsCT | XP_005262950.1:n.1102+19_1102+20delinsCT | |
| XM_005262896.1:c.955+19_955+20delinsCT | XP_005262953.1:n.955+19_955+20delinsCT | |
| XM_005262897.1:c.901+19_901+20delinsCT | XP_005262954.1:n.901+19_901+20delinsCT | |
| XM_005262898.2:c.999-70_999-69delinsCT | XP_005262955.1:n.999-70_999-69delinsCT | |
| XM_011531830.1:c.988+19_988+20delinsCT | XP_011530132.1:n.988+19_988+20delinsCT | |
| XM_011531831.1:c.787+19_787+20delinsCT | XP_011530133.1:n.787+19_787+20delinsCT | |
| XM_011531832.1:c.885-70_885-69delinsCT | XP_011530134.1:n.885-70_885-69delinsCT | |
| XR_938717.1:n.1179+19_1179+20delinsCT | ||
| NM_001363520.1:c.901+19_901+20delinsCT | NP_001350449.1:n.901+19_901+20delinsCT | |
| NM_001363521.1:c.787+19_787+20delinsCT | NP_001350450.1:n.787+19_787+20delinsCT | |
| XM_005262898.3:c.999-70_999-69delinsCT | XP_005262955.1:n.999-70_999-69delinsCT | |
| XM_017007989.1:c.798-70_798-69delinsCT | XP_016863478.1:n.798-70_798-69delinsCT | |
| XM_024453981.1:c.967+19_967+20delinsCT | XP_024309749.1:n.967+19_967+20delinsCT | |
| XM_024453982.1:c.853+19_853+20delinsCT | XP_024309750.1:n.853+19_853+20delinsCT | |
| XM_024453983.1:c.652+19_652+20delinsCT | XP_024309751.1:n.652+19_652+20delinsCT | |
| XR_001741194.1:n.1076-70_1076-69delinsCT | ||
| XR_001741195.1:n.962-70_962-69delinsCT | ||
| XR_001741196.1:n.875-70_875-69delinsCT | ||
| XR_001741197.1:n.1034+19_1034+20delinsCT | ||
| XR_001741198.2:n.931-70_931-69delinsCT | ||
| XR_001741199.1:n.931-70_931-69delinsCT | ||
| XR_938717.2:n.1179+19_1179+20delinsCT | ||
| NM_001363520.2:c.901+19_901+20delinsCT | NP_001350449.1:n.901+19_901+20delinsCT | |
| NM_001363521.2:c.787+19_787+20delinsCT | NP_001350450.1:n.787+19_787+20delinsCT | |
| NM_001371590.1:c.967+19_967+20delinsCT | NP_001358519.1:n.967+19_967+20delinsCT | |
| NM_001371591.1:c.1102+19_1102+20delinsCT | NP_001358520.1:n.1102+19_1102+20delinsCT | |
| NM_001371592.1:c.1108+19_1108+20delinsCT | NP_001358521.1:n.1108+19_1108+20delinsCT | |
| NM_001371593.1:c.988+19_988+20delinsCT | NP_001358522.1:n.988+19_988+20delinsCT | |
| NM_001371594.1:c.955+19_955+20delinsCT | NP_001358523.1:n.955+19_955+20delinsCT | |
| NM_001371595.1:c.820+19_820+20delinsCT | NP_001358524.1:n.820+19_820+20delinsCT | |
| NM_001371596.2:c.1102+19_1102+20delinsCT MANE Select | NP_001358525.1:n.1102+19_1102+20delinsCT | |
| NM_152778.3:c.1102+19_1102+20delinsCT | NP_689991.1:n.1102+19_1102+20delinsCT | |
| NM_152778.4:c.1102+19_1102+20delinsCT | NP_689991.1:n.1102+19_1102+20delinsCT |