Linked Data
gnomAD v2:
17-10543122-TAA-T
gnomAD v3:
17-10639805-TAA-T
gnomAD v4:
17-10639805-TAA-T
MyVariant Identifiers:
chr17:g.10543123_10543124del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.10639814_10639815del , CM000679.2:g.10639814_10639815del | GRCh38 |
| NC_000017.10:g.10543131_10543132del , CM000679.1:g.10543131_10543132del | GRCh37 |
| NC_000017.9:g.10483856_10483857del | NCBI36 |
| NG_011537.1:g.22492_22493del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000583535.6:c.2683-5_2683-4del MANE Select | ENSP00000464317.1:n.2683-5_2683-4del | |
| ENST00000583535.5:c.2683-5_2683-4del | ENSP00000464317.1:n.2683-5_2683-4del | |
| NM_002470.3:c.2683-5_2683-4del | NP_002461.2:n.2683-5_2683-4del | |
| XM_011523870.1:c.2683-5_2683-4del | XP_011522172.1:n.2683-5_2683-4del | |
| XM_011523871.1:c.2683-5_2683-4del | XP_011522173.1:n.2683-5_2683-4del | |
| XM_011523872.1:c.2683-5_2683-4del | XP_011522174.1:n.2683-5_2683-4del | |
| XM_011523870.3:c.2683-5_2683-4del | XP_011522172.1:n.2683-5_2683-4del | |
| XM_011523871.2:c.2683-5_2683-4del | XP_011522173.1:n.2683-5_2683-4del | |
| NM_002470.4:c.2683-5_2683-4del MANE Select | NP_002461.2:n.2683-5_2683-4del |