Linked Data
dbSNP Id:
rs779170796
gnomAD v3:
13-110169927-A-AGGAGGGAGGGAG
gnomAD v4:
13-110169927-A-AGGAGGGAGGGAG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110169935_110169946dup , CM000675.2:g.110169935_110169946dup | GRCh38 |
| NC_000013.10:g.110822282_110822293dup , CM000675.1:g.110822282_110822293dup | GRCh37 |
| NC_000013.9:g.109620283_109620294dup | NCBI36 |
| NG_011544.2:g.142211_142222dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375820.10:c.3743-177_3743-166dup MANE Select | ENSP00000364979.4:n.3743-177_3743-166dup | |
| ENST00000375820.8:c.3743-177_3743-166dup | ENSP00000364979.4:n.3743-177_3743-166dup | |
| NM_001845.5:c.3743-177_3743-166dup | NP_001836.3:n.3743-177_3743-166dup | |
| XM_011521048.1:c.3551-177_3551-166dup | XP_011519350.1:n.3551-177_3551-166dup | |
| XM_011521048.2:c.3551-177_3551-166dup | XP_011519350.1:n.3551-177_3551-166dup | |
| NM_001845.6:c.3743-177_3743-166dup MANE Select | NP_001836.3:n.3743-177_3743-166dup |