Linked Data
gnomAD v2:
1-196712565-C-CTTT
gnomAD v4:
1-196743435-C-CTTT
MyVariant Identifiers:
chr1:g.196712565_196712566insTTT (hg19)
chr1:g.196743435_196743436insTTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196743441_196743443dup , CM000663.2:g.196743441_196743443dup | GRCh38 |
| NC_000001.10:g.196712571_196712573dup , CM000663.1:g.196712571_196712573dup | GRCh37 |
| NC_000001.9:g.194979194_194979196dup | NCBI36 |
| NG_007259.1:g.96431_96433dup , LRG_47:g.96431_96433dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470918.2:n.4162-11_4162-9dup | ||
| ENST00000695970.1:c.2960-11_2960-9dup | ENSP00000512297.1:n.2960-11_2960-9dup | |
| ENST00000695971.1:c.3113-11_3113-9dup | ENSP00000512298.1:n.3113-11_3113-9dup | |
| ENST00000695972.1:c.*211-11_*211-9dup | ENSP00000512299.1:n.*211-11_*211-9dup | |
| ENST00000695973.1:c.*1498-11_*1498-9dup | ENSP00000512300.1:n.*1498-11_*1498-9dup | |
| ENST00000695974.1:c.2957-11_2957-9dup | ENSP00000512301.1:n.2957-11_2957-9dup | |
| ENST00000695975.1:c.*1261-11_*1261-9dup | ENSP00000512302.1:n.*1261-11_*1261-9dup | |
| ENST00000695976.1:c.2945-11_2945-9dup | ENSP00000512303.1:n.2945-11_2945-9dup | |
| ENST00000695981.1:c.3134-11_3134-9dup | ENSP00000512306.1:n.3134-11_3134-9dup | |
| ENST00000695984.1:c.1142-11_1142-9dup | ENSP00000512309.1:n.1142-11_1142-9dup | |
| ENST00000695986.1:c.*2785-11_*2785-9dup | ENSP00000512311.1:n.*2785-11_*2785-9dup | |
| ENST00000696026.1:c.*1416-11_*1416-9dup | ENSP00000512335.1:n.*1416-11_*1416-9dup | |
| ENST00000696027.1:c.3128-11_3128-9dup | ENSP00000512336.1:n.3128-11_3128-9dup | |
| ENST00000696028.1:c.3062-11_3062-9dup | ENSP00000512337.1:n.3062-11_3062-9dup | |
| ENST00000696029.1:c.3128-11_3128-9dup | ENSP00000512338.1:n.3128-11_3128-9dup | |
| ENST00000696031.1:c.*2652-11_*2652-9dup | ENSP00000512340.1:n.*2652-11_*2652-9dup | |
| ENST00000696032.1:c.3134-11_3134-9dup | ENSP00000512341.1:n.3134-11_3134-9dup | |
| ENST00000696033.1:c.1160-36356_1160-36354dup | ENSP00000512342.1:n.1160-36356_1160-36354dup | |
| ENST00000367429.9:c.3134-11_3134-9dup MANE Select | ENSP00000356399.4:n.3134-11_3134-9dup | |
| ENST00000367429.8:c.3134-11_3134-9dup | ENSP00000356399.4:n.3134-11_3134-9dup | |
| ENST00000466229.5:n.6232-11_6232-9dup | ||
| NM_000186.3:c.3134-11_3134-9dup , LRG_47t1:c.3134-11_3134-9dup | NP_000177.2:n.3134-11_3134-9dup | |
| XR_001737134.2:n.3320-11_3320-9dup | ||
| NM_000186.4:c.3134-11_3134-9dup MANE Select | NP_000177.2:n.3134-11_3134-9dup |