Linked Data
dbSNP Id:
rs1318634181
gnomAD v3:
17-80104529-G-GCTGAGCCCGCTTT
gnomAD v4:
17-80104529-G-GCTGAGCCCGCTTT
MyVariant Identifiers:
chr17:g.78078328_78078329insCTGAGCCCGCTTT (hg19)
chr17:g.80104529_80104530insCTGAGCCCGCTTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80104532_80104544dup , CM000679.2:g.80104532_80104544dup | GRCh38 |
| NC_000017.10:g.78078331_78078343dup , CM000679.1:g.78078331_78078343dup | GRCh37 |
| NC_000017.9:g.75692926_75692938dup | NCBI36 |
| NG_009822.1:g.7977_7989dup , LRG_673:g.7977_7989dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570803.6:c.-32-23_-32-11dup | ENSP00000460543.2:n.-32-23_-32-11dup | |
| ENST00000572080.2:c.-32-23_-32-11dup | ENSP00000459972.2:n.-32-23_-32-11dup | |
| ENST00000577106.6:c.-32-23_-32-11dup | ENSP00000458306.2:n.-32-23_-32-11dup | |
| ENST00000302262.8:c.-32-23_-32-11dup MANE Select | ENSP00000305692.3:n.-32-23_-32-11dup | |
| ENST00000302262.7:c.-32-23_-32-11dup | ENSP00000305692.3:n.-32-23_-32-11dup | |
| ENST00000390015.7:c.-32-23_-32-11dup | ENSP00000374665.3:n.-32-23_-32-11dup | |
| ENST00000570803.5:c.-32-23_-32-11dup | ENSP00000460543.1:n.-32-23_-32-11dup | |
| ENST00000577106.5:c.-32-23_-32-11dup | ENSP00000458306.1:n.-32-23_-32-11dup | |
| NM_000152.3:c.-32-23_-32-11dup , LRG_673t1:c.-32-23_-32-11dup | NP_000143.2:n.-32-23_-32-11dup | |
| NM_001079803.1:c.-32-23_-32-11dup | NP_001073271.1:n.-32-23_-32-11dup | |
| NM_001079804.1:c.-32-23_-32-11dup | NP_001073272.1:n.-32-23_-32-11dup | |
| XM_005257193.1:c.-32-23_-32-11dup | XP_005257250.1:n.-32-23_-32-11dup | |
| XM_005257194.3:c.-32-23_-32-11dup | XP_005257251.1:n.-32-23_-32-11dup | |
| NM_000152.4:c.-32-23_-32-11dup | NP_000143.2:n.-32-23_-32-11dup | |
| NM_001079803.2:c.-32-23_-32-11dup | NP_001073271.1:n.-32-23_-32-11dup | |
| NM_001079804.2:c.-32-23_-32-11dup | NP_001073272.1:n.-32-23_-32-11dup | |
| XM_005257193.2:c.-32-23_-32-11dup | XP_005257250.1:n.-32-23_-32-11dup | |
| XM_005257194.4:c.-32-23_-32-11dup | XP_005257251.1:n.-32-23_-32-11dup | |
| NM_000152.5:c.-32-23_-32-11dup MANE Select | NP_000143.2:n.-32-23_-32-11dup | |
| NM_001079803.3:c.-32-23_-32-11dup | NP_001073271.1:n.-32-23_-32-11dup | |
| NM_001079804.3:c.-32-23_-32-11dup | NP_001073272.1:n.-32-23_-32-11dup |