Linked Data
dbSNP Id:
rs1256798209
gnomAD v3:
9-97675508-G-GTTT
gnomAD v4:
9-97675508-G-GTTT
MyVariant Identifiers:
chr9:g.100437790_100437791insTTT (hg19)
chr9:g.97675508_97675509insTTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97675510_97675512dup , CM000671.2:g.97675510_97675512dup | GRCh38 |
| NC_000009.11:g.100437792_100437794dup , CM000671.1:g.100437792_100437794dup | GRCh37 |
| NC_000009.10:g.99477613_99477615dup | NCBI36 |
| NG_011642.1:g.26899_26901dup , LRG_471:g.26899_26901dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375128.5:c.750_752dup MANE Select | ENSP00000364270.5:p.Glu250_Asn251insLys | |
| ENST00000375128.4:c.750_752dup | ENSP00000364270.4:p.Glu250_Asn251insLys | |
| ENST00000462523.5:c.*186_*188dup | ENSP00000433006.1:n.*186_*188dup | |
| ENST00000485042.1:n.262_264dup | ||
| NM_000380.3:c.750_752dup , LRG_471t1:c.750_752dup | NP_000371.1:p.Glu250_Asn251insLys | |
| NR_027302.1:n.1098_1100dup | ||
| XM_006717278.1:c.750_752dup | XP_006717341.1:p.Glu250_Asn251insLys | |
| XM_011518988.1:c.750_752dup | XP_011517290.1:p.Glu250_Asn251insLys | |
| XR_929839.1:n.1281_1283dup | ||
| NM_001354975.1:c.624_626dup | NP_001341904.1:p.Glu208_Asn209insLys | |
| NR_149091.1:n.595_597dup | ||
| NR_149092.1:n.761_763dup | ||
| NR_149093.1:n.1287_1289dup | ||
| NR_149094.1:n.1181_1183dup | ||
| NM_000380.4:c.750_752dup MANE Select | NP_000371.1:p.Glu250_Asn251insLys | |
| NM_001354975.2:c.624_626dup | NP_001341904.1:p.Glu208_Asn209insLys | |
| NR_027302.2:n.1029_1031dup | ||
| NR_149091.2:n.526_528dup | ||
| NR_149092.2:n.692_694dup | ||
| NR_149093.2:n.1218_1220dup | ||
| NR_149094.2:n.1112_1114dup |