Linked Data
ClinVar Variation Id:
578890
ClinVar RCV Id:
RCV000702031
dbSNP Id:
rs1460276679
gnomAD v2:
4-128843030-TG-T
gnomAD v4:
4-127921875-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.127921878del , CM000666.2:g.127921878del | GRCh38 |
| NC_000004.11:g.128843033del , CM000666.1:g.128843033del | GRCh37 |
| NC_000004.10:g.129062483del | NCBI36 |
| NG_008657.1:g.49109del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296468.8:c.1086del | ENSP00000296468.3:p.Ile364TyrfsTer? | |
| ENST00000509826.2:c.*319del | ENSP00000421176.2:n.*319del | |
| ENST00000513559.6:c.804del | ENSP00000425000.2:p.Ile270TyrfsTer? | |
| ENST00000515130.6:c.864-105del | ENSP00000493056.1:n.864-105del | |
| ENST00000641025.1:c.999-105del | ENSP00000493346.1:n.999-105del | |
| ENST00000641092.1:c.798-105del | ENSP00000493392.1:n.798-105del | |
| ENST00000641133.1:c.*400del | ENSP00000493192.1:n.*400del | |
| ENST00000641146.1:n.952del | ||
| ENST00000641147.1:c.636del | ENSP00000493133.1:p.Ile214TyrfsTer? | |
| ENST00000641178.1:c.951del | ENSP00000492989.1:p.Ile319TyrfsTer? | |
| ENST00000641186.1:c.972del | ENSP00000493347.1:p.Ile326TyrfsTer? | |
| ENST00000641228.1:c.798-105del | ENSP00000493194.1:n.798-105del | |
| ENST00000641332.1:c.*164-105del | ENSP00000493397.1:n.*164-105del | |
| ENST00000641340.1:c.*232-105del | ENSP00000493191.1:n.*232-105del | |
| ENST00000641388.1:n.350-105del | ||
| ENST00000641393.1:c.636del | ENSP00000493197.1:p.Ile214TyrfsTer? | |
| ENST00000641397.1:c.684-105del | ENSP00000493406.1:n.684-105del | |
| ENST00000641413.1:c.28-105del | ||
| ENST00000641434.1:c.1086del | ENSP00000493279.1:p.Ile364TyrfsTer? | |
| ENST00000641464.1:c.*319del | ENSP00000493438.1:n.*319del | |
| ENST00000641482.1:c.999-105del | ENSP00000493277.1:n.999-105del | |
| ENST00000641508.1:c.*319del | ENSP00000493209.1:n.*319del | |
| ENST00000641509.1:c.771del | ENSP00000493459.1:p.Ile259TyrfsTer? | |
| ENST00000641590.1:c.885-105del | ENSP00000493132.1:n.885-105del | |
| ENST00000641658.1:c.*251del | ENSP00000492987.1:n.*251del | |
| ENST00000641686.2:c.1086del MANE Select | ENSP00000493218.2:p.Ile364TyrfsTer? | |
| ENST00000641690.1:c.885del | ENSP00000492966.1:p.Ile297TyrfsTer? | |
| ENST00000641742.1:c.*251del | ENSP00000493315.1:n.*251del | |
| ENST00000641748.1:c.1086del | ENSP00000493330.1:p.Ile364TyrfsTer? | |
| ENST00000641753.1:c.913del | ||
| ENST00000641774.1:c.*338del | ENSP00000492960.1:n.*338del | |
| ENST00000641830.1:c.335-105del | ||
| ENST00000641843.1:c.*164-105del | ENSP00000493174.1:n.*164-105del | |
| ENST00000641869.1:c.304-105del | ||
| ENST00000641870.1:c.*164-105del | ENSP00000493044.1:n.*164-105del | |
| ENST00000641882.1:c.*251del | ENSP00000493301.1:n.*251del | |
| ENST00000641928.1:c.*232-105del | ENSP00000493418.1:n.*232-105del | |
| ENST00000641949.1:c.554-1040del | ENSP00000492891.1:n.554-1040del | |
| ENST00000642012.1:n.950del | ||
| ENST00000642034.1:c.885-105del | ENSP00000493285.1:n.885-105del | |
| ENST00000642042.1:c.1086del | ENSP00000493260.1:p.Ile364TyrfsTer? | |
| ENST00000642078.1:c.*164-105del | ENSP00000492885.1:n.*164-105del | |
| ENST00000296468.7:c.1086del | ENSP00000296468.3:p.Ile364TyrfsTer? | |
| ENST00000504126.1:n.114del | ||
| ENST00000505284.5:n.894-105del | ||
| ENST00000509826.1:c.*319del | ENSP00000421176.1:n.*319del | |
| ENST00000513559.5:c.951del | ENSP00000425000.1:p.Ile319TyrfsTer? | |
| ENST00000515130.5:n.1445-105del | ||
| NM_152778.2:c.1086del | NP_689991.1:p.Ile364TyrfsTer? | |
| XM_005262893.1:c.1086del | XP_005262950.1:p.Ile364TyrfsTer? | |
| XM_005262896.1:c.939del | XP_005262953.1:p.Ile315TyrfsTer? | |
| XM_005262897.1:c.885del | XP_005262954.1:p.Ile297TyrfsTer? | |
| XM_005262898.2:c.999-105del | XP_005262955.1:n.999-105del | |
| XM_011531830.1:c.972del | XP_011530132.1:p.Ile326TyrfsTer? | |
| XM_011531831.1:c.771del | XP_011530133.1:p.Ile259TyrfsTer? | |
| XM_011531832.1:c.885-105del | XP_011530134.1:n.885-105del | |
| XR_938717.1:n.1163del | ||
| NM_001363520.1:c.885del | NP_001350449.1:p.Ile297TyrfsTer? | |
| NM_001363521.1:c.771del | NP_001350450.1:p.Ile259TyrfsTer? | |
| XM_005262898.3:c.999-105del | XP_005262955.1:n.999-105del | |
| XM_017007989.1:c.798-105del | XP_016863478.1:n.798-105del | |
| XM_024453981.1:c.951del | XP_024309749.1:p.Ile319TyrfsTer? | |
| XM_024453982.1:c.837del | XP_024309750.1:p.Ile281TyrfsTer? | |
| XM_024453983.1:c.636del | XP_024309751.1:p.Ile214TyrfsTer? | |
| XR_001741194.1:n.1076-105del | ||
| XR_001741195.1:n.962-105del | ||
| XR_001741196.1:n.875-105del | ||
| XR_001741197.1:n.1018del | ||
| XR_001741198.2:n.931-105del | ||
| XR_001741199.1:n.931-105del | ||
| XR_938717.2:n.1163del | ||
| NM_001363520.2:c.885del | NP_001350449.1:p.Ile297TyrfsTer? | |
| NM_001363521.2:c.771del | NP_001350450.1:p.Ile259TyrfsTer? | |
| NM_001371590.1:c.951del | NP_001358519.1:p.Ile319TyrfsTer? | |
| NM_001371591.1:c.1086del | NP_001358520.1:p.Ile364TyrfsTer? | |
| NM_001371592.1:c.1092del | NP_001358521.1:p.Ile366TyrfsTer? | |
| NM_001371593.1:c.972del | NP_001358522.1:p.Ile326TyrfsTer? | |
| NM_001371594.1:c.939del | NP_001358523.1:p.Ile315TyrfsTer? | |
| NM_001371595.1:c.804del | NP_001358524.1:p.Ile270TyrfsTer? | |
| NM_001371596.2:c.1086del MANE Select | NP_001358525.1:p.Ile364TyrfsTer? | |
| NM_152778.3:c.1086del | NP_689991.1:p.Ile364TyrfsTer? | |
| NM_152778.4:c.1086del | NP_689991.1:p.Ile364TyrfsTer? |