Linked Data
dbSNP Id:
rs768597044
gnomAD v3:
1-64833443-C-CTCTT
gnomAD v4:
1-64833443-C-CTCTT
MyVariant Identifiers:
chr1:g.65299126_65299127insTCTT (hg19)
chr1:g.64833443_64833444insTCTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.64833444_64833447dup , CM000663.2:g.64833444_64833447dup | GRCh38 |
| NC_000001.10:g.65299127_65299130dup , CM000663.1:g.65299127_65299130dup | GRCh37 |
| NC_000001.9:g.65071715_65071718dup | NCBI36 |
| NG_023402.1:g.138058_138061dup | |
| NG_023402.2:g.239300_239303dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465376.7:n.2920_2923dup | ||
| ENST00000671746.2:c.*4488_*4491dup | ENSP00000500065.1:n.*4488_*4491dup | |
| ENST00000671929.2:c.*1115_*1118dup | ENSP00000500485.1:n.*1115_*1118dup | |
| ENST00000671954.2:c.*1115_*1118dup | ENSP00000500841.1:n.*1115_*1118dup | |
| ENST00000672179.2:c.*1115_*1118dup | ENSP00000500296.1:n.*1115_*1118dup | |
| ENST00000672247.2:c.*1115_*1118dup | ENSP00000499884.1:n.*1115_*1118dup | |
| ENST00000672434.2:c.*1115_*1118dup | ENSP00000499900.1:n.*1115_*1118dup | |
| ENST00000672574.2:c.*1115_*1118dup | ENSP00000500714.2:n.*1115_*1118dup | |
| ENST00000672751.2:c.*1115_*1118dup | ENSP00000500745.2:n.*1115_*1118dup | |
| ENST00000673246.2:c.*1115_*1118dup | ENSP00000499942.2:n.*1115_*1118dup | |
| ENST00000673314.2:n.5879_5882dup | ||
| ENST00000673502.2:n.6039_6042dup | ||
| ENST00000699259.1:c.*1115_*1118dup | ENSP00000514240.1:n.*1115_*1118dup | |
| ENST00000699260.1:c.*1115_*1118dup | ENSP00000514241.1:n.*1115_*1118dup | |
| ENST00000699261.1:c.*1954_*1957dup | ENSP00000514242.1:n.*1954_*1957dup | |
| ENST00000699310.1:c.*1115_*1118dup | ENSP00000514289.1:n.*1115_*1118dup | |
| ENST00000699311.1:c.*3240_*3243dup | ENSP00000514290.1:n.*3240_*3243dup | |
| ENST00000699312.1:c.*1115_*1118dup | ENSP00000514291.1:n.*1115_*1118dup | |
| ENST00000699313.1:c.*3089_*3092dup | ENSP00000514292.1:n.*3089_*3092dup | |
| ENST00000342505.5:c.*1115_*1118dup MANE Select | ENSP00000343204.4:n.*1115_*1118dup | |
| ENST00000671746.1:c.*4488_*4491dup | ENSP00000500065.1:n.*4488_*4491dup | |
| ENST00000671929.1:c.*1115_*1118dup | ENSP00000500485.1:n.*1115_*1118dup | |
| ENST00000671954.1:c.*1115_*1118dup | ENSP00000500841.1:n.*1115_*1118dup | |
| ENST00000672179.1:c.*1115_*1118dup | ENSP00000500296.1:n.*1115_*1118dup | |
| ENST00000672247.1:c.*1115_*1118dup | ENSP00000499884.1:n.*1115_*1118dup | |
| ENST00000672434.1:c.*1115_*1118dup | ENSP00000499900.1:n.*1115_*1118dup | |
| ENST00000672574.1:c.2521_2524dup | ||
| ENST00000673046.1:c.*1115_*1118dup | ENSP00000500878.1:n.*1115_*1118dup | |
| ENST00000673220.1:c.*6989_*6992dup | ENSP00000500422.1:n.*6989_*6992dup | |
| ENST00000673246.1:c.4095_4098dup | ||
| ENST00000673254.1:c.*1115_*1118dup | ENSP00000500476.1:n.*1115_*1118dup | |
| ENST00000673314.1:n.5676_5679dup | ||
| ENST00000342505.4:c.*1115_*1118dup | ENSP00000343204.4:n.*1115_*1118dup | |
| NM_002227.2:c.*1115_*1118dup | NP_002218.2:n.*1115_*1118dup | |
| XM_005270841.1:c.*1115_*1118dup | XP_005270898.1:n.*1115_*1118dup | |
| XM_006710624.1:c.*1115_*1118dup | XP_006710687.1:n.*1115_*1118dup | |
| XM_011541395.1:c.*1115_*1118dup | XP_011539697.1:n.*1115_*1118dup | |
| NM_001320923.1:c.*1115_*1118dup | NP_001307852.1:n.*1115_*1118dup | |
| NM_001321852.1:c.*1115_*1118dup | NP_001308781.1:n.*1115_*1118dup | |
| NM_001321853.1:c.*1115_*1118dup | NP_001308782.1:n.*1115_*1118dup | |
| NM_001321854.1:c.*1115_*1118dup | NP_001308783.1:n.*1115_*1118dup | |
| NM_001321855.1:c.*1115_*1118dup | NP_001308784.1:n.*1115_*1118dup | |
| NM_001321856.1:c.*1115_*1118dup | NP_001308785.1:n.*1115_*1118dup | |
| NM_001321857.1:c.*1115_*1118dup | NP_001308786.1:n.*1115_*1118dup | |
| NM_002227.3:c.*1115_*1118dup | NP_002218.2:n.*1115_*1118dup | |
| NM_002227.4:c.*1115_*1118dup MANE Select | NP_002218.2:n.*1115_*1118dup | |
| NM_001321852.2:c.*1115_*1118dup | NP_001308781.1:n.*1115_*1118dup | |
| NM_001321853.2:c.*1115_*1118dup | NP_001308782.1:n.*1115_*1118dup | |
| NM_001321854.2:c.*1115_*1118dup | NP_001308783.1:n.*1115_*1118dup | |
| NM_001321855.2:c.*1115_*1118dup | NP_001308784.1:n.*1115_*1118dup | |
| NM_001321857.2:c.*1115_*1118dup | NP_001308786.1:n.*1115_*1118dup | |
| NM_001320923.2:c.*1115_*1118dup | NP_001307852.1:n.*1115_*1118dup | |
| NM_001321856.2:c.*1115_*1118dup | NP_001308785.1:n.*1115_*1118dup |