Linked Data
dbSNP Id:
rs1355414515
gnomAD v2:
2-44121687-AG-A
gnomAD v3:
2-43894548-AG-A
gnomAD v4:
2-43894548-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43894549del , CM000664.2:g.43894549del | GRCh38 |
| NC_000002.11:g.44121688del , CM000664.1:g.44121688del | GRCh37 |
| NC_000002.10:g.43975192del | NCBI36 |
| NG_008247.1:g.106457del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000419884.6:c.611del | ||
| ENST00000681993.1:n.1533del | ||
| ENST00000682154.1:n.1415del | ||
| ENST00000682303.1:c.*3692del | ENSP00000508325.1:n.*3692del | |
| ENST00000682308.1:c.3906del | ENSP00000507056.1:p.Tyr1303MetfsTer17 | |
| ENST00000682434.1:n.3536del | ||
| ENST00000682480.1:c.3999del | ENSP00000508344.1:p.Tyr1334MetfsTer17 | |
| ENST00000682546.1:c.3978del | ENSP00000508188.1:p.Tyr1327MetfsTer17 | |
| ENST00000682585.1:c.*109del | ENSP00000506885.1:n.*109del | |
| ENST00000682607.1:c.2724del | ||
| ENST00000682612.1:c.752+2085del | ||
| ENST00000682696.1:c.81del | ENSP00000508411.1:p.Tyr28MetfsTer? | |
| ENST00000682779.1:c.3972del | ENSP00000507947.1:p.Tyr1325MetfsTer17 | |
| ENST00000682885.1:c.3936del | ENSP00000508036.1:p.Tyr1313MetfsTer17 | |
| ENST00000682933.1:n.4181del | ||
| ENST00000683002.1:c.833del | ||
| ENST00000683072.1:n.4565del | ||
| ENST00000683080.1:n.1600del | ||
| ENST00000683096.1:n.2422del | ||
| ENST00000683125.1:c.4089del | ENSP00000507939.1:p.Tyr1364MetfsTer17 | |
| ENST00000683213.1:c.3984del | ENSP00000507751.1:p.Tyr1329MetfsTer17 | |
| ENST00000683220.1:c.4011del | ENSP00000507151.1:p.Tyr1338MetfsTer17 | |
| ENST00000683329.1:n.4784del | ||
| ENST00000683346.1:c.*3856del | ENSP00000507458.1:n.*3856del | |
| ENST00000683409.1:n.2513del | ||
| ENST00000683459.1:n.4568del | ||
| ENST00000683590.1:c.3654del | ENSP00000506820.1:p.Tyr1219MetfsTer17 | |
| ENST00000683623.1:c.3888del | ENSP00000507702.1:p.Tyr1297MetfsTer17 | |
| ENST00000683796.1:c.*3778del | ENSP00000508221.1:n.*3778del | |
| ENST00000683833.1:c.3897del | ENSP00000506852.1:p.Tyr1300MetfsTer17 | |
| ENST00000683994.1:c.*94del | ENSP00000507181.1:n.*94del | |
| ENST00000684290.1:c.*1442del | ENSP00000507243.1:n.*1442del | |
| ENST00000684306.1:c.*3894del | ENSP00000508384.1:n.*3894del | |
| ENST00000684383.1:c.*3619del | ENSP00000506863.1:n.*3619del | |
| ENST00000684418.1:n.5162del | ||
| ENST00000684433.1:n.365del | ||
| ENST00000684454.1:n.7845del | ||
| ENST00000684619.1:c.*3853del | ENSP00000508088.1:n.*3853del | |
| ENST00000684743.1:n.6726del | ||
| ENST00000260665.12:c.3981del MANE Select | ENSP00000260665.7:p.Tyr1328MetfsTer17 | |
| ENST00000260665.11:c.3981del | ENSP00000260665.7:p.Tyr1328MetfsTer17 | |
| ENST00000419884.5:c.222del | ENSP00000414207.1:p.Tyr75MetfsTer8 | |
| ENST00000463456.5:n.3024del | ||
| NM_133259.3:c.3981del | NP_573566.2:p.Tyr1328MetfsTer17 | |
| XM_006711915.2:c.3903del | XP_006711978.1:p.Tyr1302MetfsTer17 | |
| XM_011532473.1:c.3906del | XP_011530775.1:p.Tyr1303MetfsTer17 | |
| XM_011532474.1:c.3981del | XP_011530776.1:p.Tyr1328MetfsTer8 | |
| XM_017003117.1:c.3828del | XP_016858606.1:p.Tyr1277MetfsTer17 | |
| XR_002958896.1:n.4023del | ||
| NM_133259.4:c.3981del MANE Select | NP_573566.2:p.Tyr1328MetfsTer17 |