SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
This migration is underway but taking longer than originally estimated.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
This migration is underway but taking longer than originally estimated.
Linked Data
gnomAD v4:
4-127921395-A-ATTCAGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.127921395_127921396insTTCAGC , CM000666.2:g.127921395_127921396insTTCAGC | GRCh38 |
| NC_000004.11:g.128842550_128842551insTTCAGC , CM000666.1:g.128842550_128842551insTTCAGC | GRCh37 |
| NC_000004.10:g.129062000_129062001insTTCAGC | NCBI36 |
| NG_008657.1:g.49589_49590insGCTGAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296468.8:c.1350+128_1350+129insGCTGAA | ENSP00000296468.3:n.1350+128_1350+129insGCTGAA | |
| ENST00000509826.2:c.*671+128_*671+129insGCTGAA | ENSP00000421176.2:n.*671+128_*671+129insGCTGAA | |
| ENST00000513559.6:c.1068+128_1068+129insGCTGAA | ENSP00000425000.2:n.1068+128_1068+129insGCTGAA | |
| ENST00000515130.6:c.*235+128_*235+129insGCTGAA | ENSP00000493056.1:n.*235+128_*235+129insGCTGAA | |
| ENST00000641025.1:c.*235+128_*235+129insGCTGAA | ENSP00000493346.1:n.*235+128_*235+129insGCTGAA | |
| ENST00000641092.1:c.*235+128_*235+129insGCTGAA | ENSP00000493392.1:n.*235+128_*235+129insGCTGAA | |
| ENST00000641133.1:c.*792_*793insGCTGAA | ENSP00000493192.1:n.*792_*793insGCTGAA | |
| ENST00000641146.1:n.1344_1345insGCTGAA | ||
| ENST00000641147.1:c.900+128_900+129insGCTGAA | ENSP00000493133.1:n.900+128_900+129insGCTGAA | |
| ENST00000641178.1:c.1215+128_1215+129insGCTGAA | ENSP00000492989.1:n.1215+128_1215+129insGCTGAA | |
| ENST00000641186.1:c.1236+128_1236+129insGCTGAA | ENSP00000493347.1:n.1236+128_1236+129insGCTGAA | |
| ENST00000641228.1:c.*363_*364insGCTGAA | ENSP00000493194.1:n.*363_*364insGCTGAA | |
| ENST00000641332.1:c.*411+128_*411+129insGCTGAA | ENSP00000493397.1:n.*411+128_*411+129insGCTGAA | |
| ENST00000641340.1:c.*607_*608insGCTGAA | ENSP00000493191.1:n.*607_*608insGCTGAA | |
| ENST00000641388.1:n.597+128_597+129insGCTGAA | ||
| ENST00000641393.1:c.900+128_900+129insGCTGAA | ENSP00000493197.1:n.900+128_900+129insGCTGAA | |
| ENST00000641397.1:c.*235+128_*235+129insGCTGAA | ENSP00000493406.1:n.*235+128_*235+129insGCTGAA | |
| ENST00000641413.1:c.275+128_275+129insGCTGAA | ||
| ENST00000641434.1:c.1350+128_1350+129insGCTGAA | ENSP00000493279.1:n.1350+128_1350+129insGCTGAA | |
| ENST00000641464.1:c.*583+128_*583+129insGCTGAA | ENSP00000493438.1:n.*583+128_*583+129insGCTGAA | |
| ENST00000641482.1:c.*363_*364insGCTGAA | ENSP00000493277.1:n.*363_*364insGCTGAA | |
| ENST00000641508.1:c.*583+128_*583+129insGCTGAA | ENSP00000493209.1:n.*583+128_*583+129insGCTGAA | |
| ENST00000641509.1:c.1035+128_1035+129insGCTGAA | ENSP00000493459.1:n.1035+128_1035+129insGCTGAA | |
| ENST00000641590.1:c.*363_*364insGCTGAA | ENSP00000493132.1:n.*363_*364insGCTGAA | |
| ENST00000641658.1:c.*515+128_*515+129insGCTGAA | ENSP00000492987.1:n.*515+128_*515+129insGCTGAA | |
| ENST00000641686.2:c.1350+128_1350+129insGCTGAA MANE Select | ENSP00000493218.2:n.1350+128_1350+129insGCTGAA | |
| ENST00000641690.1:c.1149+128_1149+129insGCTGAA | ENSP00000492966.1:n.1149+128_1149+129insGCTGAA | |
| ENST00000641742.1:c.*515+128_*515+129insGCTGAA | ENSP00000493315.1:n.*515+128_*515+129insGCTGAA | |
| ENST00000641748.1:c.1350+128_1350+129insGCTGAA | ENSP00000493330.1:n.1350+128_1350+129insGCTGAA | |
| ENST00000641753.1:c.1177+128_1177+129insGCTGAA | ||
| ENST00000641774.1:c.*602+128_*602+129insGCTGAA | ENSP00000492960.1:n.*602+128_*602+129insGCTGAA | |
| ENST00000641843.1:c.*411+128_*411+129insGCTGAA | ENSP00000493174.1:n.*411+128_*411+129insGCTGAA | |
| ENST00000641869.1:c.551+128_551+129insGCTGAA | ||
| ENST00000641870.1:c.*539_*540insGCTGAA | ENSP00000493044.1:n.*539_*540insGCTGAA | |
| ENST00000641882.1:c.*515+128_*515+129insGCTGAA | ENSP00000493301.1:n.*515+128_*515+129insGCTGAA | |
| ENST00000641928.1:c.*479+128_*479+129insGCTGAA | ENSP00000493418.1:n.*479+128_*479+129insGCTGAA | |
| ENST00000641949.1:c.554-560_554-559insGCTGAA | ENSP00000492891.1:n.554-560_554-559insGCTGAA | |
| ENST00000642012.1:n.1214+128_1214+129insGCTGAA | ||
| ENST00000642034.1:c.*235+128_*235+129insGCTGAA | ENSP00000493285.1:n.*235+128_*235+129insGCTGAA | |
| ENST00000642042.1:c.*110_*111insGCTGAA | ENSP00000493260.1:n.*110_*111insGCTGAA | |
| ENST00000642078.1:c.*411+128_*411+129insGCTGAA | ENSP00000492885.1:n.*411+128_*411+129insGCTGAA | |
| ENST00000296468.7:c.1350+128_1350+129insGCTGAA | ENSP00000296468.3:n.1350+128_1350+129insGCTGAA | |
| ENST00000504126.1:n.506_507insGCTGAA | ||
| ENST00000513559.5:c.1215+128_1215+129insGCTGAA | ENSP00000425000.1:n.1215+128_1215+129insGCTGAA | |
| ENST00000515130.5:n.1692+128_1692+129insGCTGAA | ||
| NM_152778.2:c.1350+128_1350+129insGCTGAA | NP_689991.1:n.1350+128_1350+129insGCTGAA | |
| XM_005262893.1:c.1350+128_1350+129insGCTGAA | XP_005262950.1:n.1350+128_1350+129insGCTGAA | |
| XM_005262896.1:c.1203+128_1203+129insGCTGAA | XP_005262953.1:n.1203+128_1203+129insGCTGAA | |
| XM_005262897.1:c.1149+128_1149+129insGCTGAA | XP_005262954.1:n.1149+128_1149+129insGCTGAA | |
| XM_005262898.2:c.*363_*364insGCTGAA | XP_005262955.1:n.*363_*364insGCTGAA | |
| XM_011531830.1:c.1236+128_1236+129insGCTGAA | XP_011530132.1:n.1236+128_1236+129insGCTGAA | |
| XM_011531831.1:c.1035+128_1035+129insGCTGAA | XP_011530133.1:n.1035+128_1035+129insGCTGAA | |
| XM_011531832.1:c.*363_*364insGCTGAA | XP_011530134.1:n.*363_*364insGCTGAA | |
| XR_938717.1:n.1555_1556insGCTGAA | ||
| NM_001363520.1:c.1149+128_1149+129insGCTGAA | NP_001350449.1:n.1149+128_1149+129insGCTGAA | |
| NM_001363521.1:c.1035+128_1035+129insGCTGAA | NP_001350450.1:n.1035+128_1035+129insGCTGAA | |
| XM_005262898.3:c.*363_*364insGCTGAA | XP_005262955.1:n.*363_*364insGCTGAA | |
| XM_017007989.1:c.*363_*364insGCTGAA | XP_016863478.1:n.*363_*364insGCTGAA | |
| XM_024453981.1:c.1215+128_1215+129insGCTGAA | XP_024309749.1:n.1215+128_1215+129insGCTGAA | |
| XM_024453982.1:c.1101+128_1101+129insGCTGAA | XP_024309750.1:n.1101+128_1101+129insGCTGAA | |
| XM_024453983.1:c.900+128_900+129insGCTGAA | XP_024309751.1:n.900+128_900+129insGCTGAA | |
| XR_001741194.1:n.1323+128_1323+129insGCTGAA | ||
| XR_001741195.1:n.1209+128_1209+129insGCTGAA | ||
| XR_001741196.1:n.1122+128_1122+129insGCTGAA | ||
| XR_001741197.1:n.1410_1411insGCTGAA | ||
| XR_001741198.2:n.1306_1307insGCTGAA | ||
| XR_001741199.1:n.1178+128_1178+129insGCTGAA | ||
| XR_938717.2:n.1555_1556insGCTGAA | ||
| NM_001363520.2:c.1149+128_1149+129insGCTGAA | NP_001350449.1:n.1149+128_1149+129insGCTGAA | |
| NM_001363521.2:c.1035+128_1035+129insGCTGAA | NP_001350450.1:n.1035+128_1035+129insGCTGAA | |
| NM_001371590.1:c.1215+128_1215+129insGCTGAA | NP_001358519.1:n.1215+128_1215+129insGCTGAA | |
| NM_001371591.1:c.1359+119_1359+120insGCTGAA | NP_001358520.1:n.1359+119_1359+120insGCTGAA | |
| NM_001371592.1:c.1356+128_1356+129insGCTGAA | NP_001358521.1:n.1356+128_1356+129insGCTGAA | |
| NM_001371593.1:c.1236+128_1236+129insGCTGAA | NP_001358522.1:n.1236+128_1236+129insGCTGAA | |
| NM_001371594.1:c.1203+128_1203+129insGCTGAA | NP_001358523.1:n.1203+128_1203+129insGCTGAA | |
| NM_001371595.1:c.1068+128_1068+129insGCTGAA | NP_001358524.1:n.1068+128_1068+129insGCTGAA | |
| NM_001371596.2:c.1350+128_1350+129insGCTGAA MANE Select | NP_001358525.1:n.1350+128_1350+129insGCTGAA | |
| NM_152778.3:c.1350+128_1350+129insGCTGAA | NP_689991.1:n.1350+128_1350+129insGCTGAA | |
| NM_152778.4:c.1350+128_1350+129insGCTGAA | NP_689991.1:n.1350+128_1350+129insGCTGAA |