Linked Data
dbSNP Id:
rs1238247311
gnomAD v3:
1-196747230-T-TATCGTCTTTC
gnomAD v4:
1-196747230-T-TATCGTCTTTC
MyVariant Identifiers:
chr1:g.196716360_196716361insATCGTCTTTC (hg19)
chr1:g.196747230_196747231insATCGTCTTTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196747234_196747243dup , CM000663.2:g.196747234_196747243dup | GRCh38 |
| NC_000001.10:g.196716364_196716373dup , CM000663.1:g.196716364_196716373dup | GRCh37 |
| NC_000001.9:g.194982987_194982996dup | NCBI36 |
| NG_007259.1:g.100224_100233dup , LRG_47:g.100224_100233dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470918.2:n.4645_4654dup | ||
| ENST00000695970.1:c.3443_3452dup | ENSP00000512297.1:p.Arg1152SerfsTer? | |
| ENST00000695971.1:c.3596_3605dup | ENSP00000512298.1:p.Arg1203SerfsTer? | |
| ENST00000695972.1:c.*694_*703dup | ENSP00000512299.1:n.*694_*703dup | |
| ENST00000695973.1:c.*1981_*1990dup | ENSP00000512300.1:n.*1981_*1990dup | |
| ENST00000695974.1:c.3440_3449dup | ENSP00000512301.1:p.Arg1151SerfsTer? | |
| ENST00000695975.1:c.*1744_*1753dup | ENSP00000512302.1:n.*1744_*1753dup | |
| ENST00000695976.1:c.3428_3437dup | ENSP00000512303.1:p.Arg1147SerfsTer? | |
| ENST00000695981.1:c.3580+37_3580+46dup | ENSP00000512306.1:n.3580+37_3580+46dup | |
| ENST00000695984.1:c.1625_1634dup | ENSP00000512309.1:p.Arg546SerfsTer? | |
| ENST00000695986.1:c.*3268_*3277dup | ENSP00000512311.1:n.*3268_*3277dup | |
| ENST00000695990.1:n.651_660dup | ||
| ENST00000696026.1:c.*1899_*1908dup | ENSP00000512335.1:n.*1899_*1908dup | |
| ENST00000696027.1:c.3611_3620dup | ENSP00000512336.1:p.Arg1208SerfsTer? | |
| ENST00000696028.1:c.3545_3554dup | ENSP00000512337.1:p.Arg1186SerfsTer? | |
| ENST00000696029.1:c.3611_3620dup | ENSP00000512338.1:p.Arg1208SerfsTer? | |
| ENST00000696031.1:c.*3135_*3144dup | ENSP00000512340.1:n.*3135_*3144dup | |
| ENST00000696032.1:c.3580+37_3580+46dup | ENSP00000512341.1:n.3580+37_3580+46dup | |
| ENST00000696033.1:c.1160-32563_1160-32554dup | ENSP00000512342.1:n.1160-32563_1160-32554dup | |
| ENST00000367429.9:c.3617_3626dup MANE Select | ENSP00000356399.4:p.Arg1210SerfsTer? | |
| ENST00000367429.8:c.3617_3626dup | ENSP00000356399.4:p.Arg1210SerfsTer? | |
| ENST00000466229.5:n.6715_6724dup | ||
| NM_000186.3:c.3617_3626dup , LRG_47t1:c.3617_3626dup | NP_000177.2:p.Arg1210SerfsTer? | |
| XR_001737134.2:n.3803_3812dup | ||
| NM_000186.4:c.3617_3626dup MANE Select | NP_000177.2:p.Arg1210SerfsTer? |