Linked Data
gnomAD v3:
16-17138785-C-CTGACTGTCAAGGGACTCTTATGTTCT
gnomAD v4:
16-17138785-C-CTGACTGTCAAGGGACTCTTATGTTCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.17138786_17138811dup , CM000678.2:g.17138786_17138811dup | GRCh38 |
| NC_000016.9:g.17232643_17232668dup , CM000678.1:g.17232643_17232668dup | GRCh37 |
| NC_000016.8:g.17140144_17140169dup | NCBI36 |
| NG_015843.1:g.337071_337096dup | |
| NG_015843.2:g.337071_337096dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261381.7:c.1588-280_1588-255dup MANE Select | ENSP00000261381.6:n.1588-280_1588-255dup | |
| ENST00000261381.6:c.1588-280_1588-255dup | ENSP00000261381.6:n.1588-280_1588-255dup | |
| NM_022166.3:c.1588-280_1588-255dup | NP_071449.1:n.1588-280_1588-255dup | |
| XM_011522574.1:c.1588-280_1588-255dup | XP_011520876.1:n.1588-280_1588-255dup | |
| XM_017023539.2:c.1588-280_1588-255dup | XP_016879028.1:n.1588-280_1588-255dup | |
| XM_017023540.2:c.1588-280_1588-255dup | XP_016879029.1:n.1588-280_1588-255dup | |
| NM_022166.4:c.1588-280_1588-255dup MANE Select | NP_071449.1:n.1588-280_1588-255dup |