Linked Data
dbSNP Id:
rs1417727168
gnomAD v3:
9-127813756-T-TGTC
gnomAD v4:
9-127813756-T-TGTC
MyVariant Identifiers:
chr9:g.130576035_130576036insGTC (hg19)
chr9:g.127813756_127813757insGTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127813757_127813759dup , CM000671.2:g.127813757_127813759dup | GRCh38 |
| NC_000009.11:g.130576036_130576038dup , CM000671.1:g.130576036_130576038dup | GRCh37 |
| NC_000009.10:g.129615857_129615859dup | NCBI36 |
| NG_009551.1:g.46010_46012dup , LRG_589:g.46010_46012dup | |
| NG_023245.1:g.15883_15885dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373247.7:c.*153_*155dup MANE Select | ENSP00000362344.2:n.*153_*155dup | |
| ENST00000373225.7:c.*153_*155dup | ENSP00000362322.3:n.*153_*155dup | |
| ENST00000373247.6:c.*153_*155dup | ENSP00000362344.2:n.*153_*155dup | |
| ENST00000393706.6:c.*153_*155dup | ENSP00000377309.2:n.*153_*155dup | |
| ENST00000460181.5:n.1905_1907dup | ||
| ENST00000467826.5:n.709+434_709+436dup | ||
| ENST00000630236.2:c.*641_*643dup | ENSP00000486766.1:n.*641_*643dup | |
| NM_001018078.2:c.*153_*155dup | NP_001018088.1:n.*153_*155dup | |
| NM_001288803.1:c.*153_*155dup | NP_001275732.1:n.*153_*155dup | |
| NM_004957.5:c.*153_*155dup | NP_004948.4:n.*153_*155dup | |
| NR_110170.1:n.1965_1967dup | ||
| XM_005251864.2:c.1483+434_1483+436dup | XP_005251921.1:n.1483+434_1483+436dup | |
| XM_011518437.1:c.*153_*155dup | XP_011516739.1:n.*153_*155dup | |
| XM_011518438.1:c.*153_*155dup | XP_011516740.1:n.*153_*155dup | |
| XM_011518439.1:c.*153_*155dup | XP_011516741.1:n.*153_*155dup | |
| XR_242581.2:n.1814_1816dup | ||
| XR_242582.2:n.1380+434_1380+436dup | ||
| XM_005251864.4:c.1483+434_1483+436dup | XP_005251921.1:n.1483+434_1483+436dup | |
| XM_011518439.2:c.*153_*155dup | XP_011516741.1:n.*153_*155dup | |
| XM_017014565.2:c.1333+434_1333+436dup | XP_016870054.1:n.1333+434_1333+436dup | |
| XM_017014566.1:c.*153_*155dup | XP_016870055.1:n.*153_*155dup | |
| XR_242581.4:n.1812_1814dup | ||
| XR_242582.4:n.1378+434_1378+436dup | ||
| NM_004957.6:c.*153_*155dup MANE Select | NP_004948.4:n.*153_*155dup |