Linked Data
dbSNP Id:
rs749674058
ExAC:
4:128842635 CA / C
gnomAD v2:
4-128842635-CA-C
gnomAD v4:
4-127921480-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.127921482del , CM000666.2:g.127921482del | GRCh38 |
| NC_000004.11:g.128842637del , CM000666.1:g.128842637del | GRCh37 |
| NC_000004.10:g.129062087del | NCBI36 |
| NG_008657.1:g.49504del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296468.8:c.1350+43del | ENSP00000296468.3:n.1350+43del | |
| ENST00000509826.2:c.*671+43del | ENSP00000421176.2:n.*671+43del | |
| ENST00000513559.6:c.1068+43del | ENSP00000425000.2:n.1068+43del | |
| ENST00000515130.6:c.*235+43del | ENSP00000493056.1:n.*235+43del | |
| ENST00000641025.1:c.*235+43del | ENSP00000493346.1:n.*235+43del | |
| ENST00000641092.1:c.*235+43del | ENSP00000493392.1:n.*235+43del | |
| ENST00000641133.1:c.*707del | ENSP00000493192.1:n.*707del | |
| ENST00000641146.1:n.1259del | ||
| ENST00000641147.1:c.900+43del | ENSP00000493133.1:n.900+43del | |
| ENST00000641178.1:c.1215+43del | ENSP00000492989.1:n.1215+43del | |
| ENST00000641186.1:c.1236+43del | ENSP00000493347.1:n.1236+43del | |
| ENST00000641228.1:c.*278del | ENSP00000493194.1:n.*278del | |
| ENST00000641332.1:c.*411+43del | ENSP00000493397.1:n.*411+43del | |
| ENST00000641340.1:c.*522del | ENSP00000493191.1:n.*522del | |
| ENST00000641388.1:n.597+43del | ||
| ENST00000641393.1:c.900+43del | ENSP00000493197.1:n.900+43del | |
| ENST00000641397.1:c.*235+43del | ENSP00000493406.1:n.*235+43del | |
| ENST00000641413.1:c.275+43del | ||
| ENST00000641434.1:c.1350+43del | ENSP00000493279.1:n.1350+43del | |
| ENST00000641464.1:c.*583+43del | ENSP00000493438.1:n.*583+43del | |
| ENST00000641482.1:c.*278del | ENSP00000493277.1:n.*278del | |
| ENST00000641508.1:c.*583+43del | ENSP00000493209.1:n.*583+43del | |
| ENST00000641509.1:c.1035+43del | ENSP00000493459.1:n.1035+43del | |
| ENST00000641590.1:c.*278del | ENSP00000493132.1:n.*278del | |
| ENST00000641658.1:c.*515+43del | ENSP00000492987.1:n.*515+43del | |
| ENST00000641686.2:c.1350+43del MANE Select | ENSP00000493218.2:n.1350+43del | |
| ENST00000641690.1:c.1149+43del | ENSP00000492966.1:n.1149+43del | |
| ENST00000641742.1:c.*515+43del | ENSP00000493315.1:n.*515+43del | |
| ENST00000641748.1:c.1350+43del | ENSP00000493330.1:n.1350+43del | |
| ENST00000641753.1:c.1177+43del | ||
| ENST00000641774.1:c.*602+43del | ENSP00000492960.1:n.*602+43del | |
| ENST00000641830.1:c.625del | ||
| ENST00000641843.1:c.*411+43del | ENSP00000493174.1:n.*411+43del | |
| ENST00000641869.1:c.551+43del | ||
| ENST00000641870.1:c.*454del | ENSP00000493044.1:n.*454del | |
| ENST00000641882.1:c.*515+43del | ENSP00000493301.1:n.*515+43del | |
| ENST00000641928.1:c.*479+43del | ENSP00000493418.1:n.*479+43del | |
| ENST00000641949.1:c.554-645del | ENSP00000492891.1:n.554-645del | |
| ENST00000642012.1:n.1214+43del | ||
| ENST00000642034.1:c.*235+43del | ENSP00000493285.1:n.*235+43del | |
| ENST00000642042.1:c.*25del | ENSP00000493260.1:n.*25del | |
| ENST00000642078.1:c.*411+43del | ENSP00000492885.1:n.*411+43del | |
| ENST00000296468.7:c.1350+43del | ENSP00000296468.3:n.1350+43del | |
| ENST00000504126.1:n.421del | ||
| ENST00000513559.5:c.1215+43del | ENSP00000425000.1:n.1215+43del | |
| ENST00000515130.5:n.1692+43del | ||
| NM_152778.2:c.1350+43del | NP_689991.1:n.1350+43del | |
| XM_005262893.1:c.1350+43del | XP_005262950.1:n.1350+43del | |
| XM_005262896.1:c.1203+43del | XP_005262953.1:n.1203+43del | |
| XM_005262897.1:c.1149+43del | XP_005262954.1:n.1149+43del | |
| XM_005262898.2:c.*278del | XP_005262955.1:n.*278del | |
| XM_011531830.1:c.1236+43del | XP_011530132.1:n.1236+43del | |
| XM_011531831.1:c.1035+43del | XP_011530133.1:n.1035+43del | |
| XM_011531832.1:c.*278del | XP_011530134.1:n.*278del | |
| XR_938717.1:n.1470del | ||
| NM_001363520.1:c.1149+43del | NP_001350449.1:n.1149+43del | |
| NM_001363521.1:c.1035+43del | NP_001350450.1:n.1035+43del | |
| XM_005262898.3:c.*278del | XP_005262955.1:n.*278del | |
| XM_017007989.1:c.*278del | XP_016863478.1:n.*278del | |
| XM_024453981.1:c.1215+43del | XP_024309749.1:n.1215+43del | |
| XM_024453982.1:c.1101+43del | XP_024309750.1:n.1101+43del | |
| XM_024453983.1:c.900+43del | XP_024309751.1:n.900+43del | |
| XR_001741194.1:n.1323+43del | ||
| XR_001741195.1:n.1209+43del | ||
| XR_001741196.1:n.1122+43del | ||
| XR_001741197.1:n.1325del | ||
| XR_001741198.2:n.1221del | ||
| XR_001741199.1:n.1178+43del | ||
| XR_938717.2:n.1470del | ||
| NM_001363520.2:c.1149+43del | NP_001350449.1:n.1149+43del | |
| NM_001363521.2:c.1035+43del | NP_001350450.1:n.1035+43del | |
| NM_001371590.1:c.1215+43del | NP_001358519.1:n.1215+43del | |
| NM_001371591.1:c.1359+34del | NP_001358520.1:n.1359+34del | |
| NM_001371592.1:c.1356+43del | NP_001358521.1:n.1356+43del | |
| NM_001371593.1:c.1236+43del | NP_001358522.1:n.1236+43del | |
| NM_001371594.1:c.1203+43del | NP_001358523.1:n.1203+43del | |
| NM_001371595.1:c.1068+43del | NP_001358524.1:n.1068+43del | |
| NM_001371596.2:c.1350+43del MANE Select | NP_001358525.1:n.1350+43del | |
| NM_152778.3:c.1350+43del | NP_689991.1:n.1350+43del | |
| NM_152778.4:c.1350+43del | NP_689991.1:n.1350+43del |