Linked Data
dbSNP Id:
rs764517184
ExAC:
10:127477388 G / GCCAGC
gnomAD v3:
10-125788819-G-GCCAGC
gnomAD v4:
10-125788819-G-GCCAGC
MyVariant Identifiers:
chr10:g.127477388_127477389insCCAGC (hg19)
chr10:g.125788819_125788820insCCAGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.125788829_125788833dup , CM000672.2:g.125788829_125788833dup | GRCh38 |
| NC_000010.10:g.127477398_127477402dup , CM000672.1:g.127477398_127477402dup | GRCh37 |
| NC_000010.9:g.127467388_127467392dup | NCBI36 |
| NG_011557.1:g.39445_39449dup | |
| NG_011557.2:g.39445_39449dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000713579.1:c.*44_*48dup | ENSP00000518871.1:n.*44_*48dup | |
| ENST00000368797.10:c.*44_*48dup MANE Select | ENSP00000357787.4:n.*44_*48dup | |
| ENST00000465577.6:c.862_866dup | ||
| ENST00000648427.1:c.*840_*844dup | ENSP00000497909.1:n.*840_*844dup | |
| ENST00000649536.1:c.*44_*48dup | ENSP00000497817.1:n.*44_*48dup | |
| ENST00000650472.1:n.3228_3232dup | ||
| ENST00000650524.1:c.755_759dup | ENSP00000498108.1:n.755_759dup | |
| ENST00000650587.1:c.*44_*48dup | ENSP00000497366.1:n.*44_*48dup | |
| ENST00000368786.5:c.*44_*48dup | ENSP00000357775.1:n.*44_*48dup | |
| ENST00000368797.8:c.*44_*48dup | ENSP00000357787.4:n.*44_*48dup | |
| ENST00000464267.1:n.939_943dup | ||
| ENST00000465577.5:n.484_488dup | ||
| ENST00000470483.1:n.530_534dup | ||
| ENST00000484541.5:n.615_619dup | ||
| ENST00000616800.4:c.161-3564_161-3560dup | ||
| ENST00000622016.4:c.241-2985_241-2981dup | ENSP00000483041.1:n.241-2985_241-2981dup | |
| NM_000375.2:c.*44_*48dup | NP_000366.1:n.*44_*48dup | |
| XM_005270137.2:c.*44_*48dup | XP_005270194.1:n.*44_*48dup | |
| XM_005270138.2:c.*44_*48dup | XP_005270195.1:n.*44_*48dup | |
| XM_005270139.2:c.661-2985_661-2981dup | XP_005270196.1:n.661-2985_661-2981dup | |
| XM_006717960.2:c.*44_*48dup | XP_006718023.1:n.*44_*48dup | |
| XM_011540127.1:c.661-3564_661-3560dup | XP_011538429.1:n.661-3564_661-3560dup | |
| XR_246103.2:n.1022_1026dup | ||
| XR_945810.1:n.1252_1256dup | ||
| NM_000375.3:c.*44_*48dup MANE Select | NP_000366.1:n.*44_*48dup | |
| NM_001324036.1:c.*44_*48dup | NP_001310965.1:n.*44_*48dup | |
| NM_001324037.1:c.*44_*48dup | NP_001310966.1:n.*44_*48dup | |
| NM_001324038.1:c.*44_*48dup | NP_001310967.1:n.*44_*48dup | |
| NR_136675.1:n.927_931dup | ||
| NR_136676.1:n.1354_1358dup | ||
| NR_136677.1:n.927-2985_927-2981dup | ||
| NR_136678.1:n.838_842dup | ||
| XM_011540127.2:c.661-3564_661-3560dup | XP_011538429.1:n.661-3564_661-3560dup | |
| XM_017016611.2:c.*44_*48dup | XP_016872100.2:n.*44_*48dup | |
| XM_017016612.2:c.661-2985_661-2981dup | XP_016872101.1:n.661-2985_661-2981dup | |
| XM_024448154.1:c.*44_*48dup | XP_024303922.1:n.*44_*48dup | |
| XR_002957010.1:n.2181_2185dup | ||
| XR_246103.3:n.1037_1041dup | ||
| XR_945810.2:n.1267_1271dup | ||
| NM_001324036.2:c.*44_*48dup | NP_001310965.1:n.*44_*48dup | |
| NM_001324037.2:c.*44_*48dup | NP_001310966.1:n.*44_*48dup | |
| NM_001324038.2:c.*44_*48dup | NP_001310967.1:n.*44_*48dup | |
| NR_136675.2:n.917_921dup | ||
| NR_136676.2:n.1344_1348dup | ||
| NR_136678.2:n.828_832dup | ||
| NR_136677.2:n.917-2985_917-2981dup |