Linked Data
dbSNP Id:
rs1737170568
gnomAD v3:
5-14711146-G-GAAGTGTCATCCTGACTGACTGTC
gnomAD v4:
5-14711146-G-GAAGTGTCATCCTGACTGACTGTC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14711147_14711169dup , CM000667.2:g.14711147_14711169dup | GRCh38 |
| NC_000005.9:g.14711256_14711278dup , CM000667.1:g.14711256_14711278dup | GRCh37 |
| NC_000005.8:g.14764256_14764278dup | NCBI36 |
| NG_008273.1:g.165610_165632dup | |
| NG_008273.2:g.165617_165639dup | |
| NG_051625.1:g.55354_55376dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.*28_*50dup (ANKH) MANE Select | ENSP00000284268.6:n.*28_*50dup | |
| ENST00000284268.6:c.*28_*50dup (ANKH) | ENSP00000284268.6:n.*28_*50dup | |
| ENST00000502585.1:n.749_771dup (ANKH) | ||
| NM_054027.4:c.*28_*50dup (ANKH) | NP_473368.1:n.*28_*50dup | |
| XM_011514151.1:c.*47-1575_*47-1553dup (OTULIN) | XP_011512453.1:n.*47-1575_*47-1553dup | |
| NM_054027.5:c.*28_*50dup (ANKH) | NP_473368.1:n.*28_*50dup | |
| XM_011514151.2:c.*47-1575_*47-1553dup (OTULIN) | XP_011512453.1:n.*47-1575_*47-1553dup | |
| XM_017009644.2:c.*28_*50dup (ANKH) | XP_016865133.1:n.*28_*50dup | |
| NM_054027.6:c.*28_*50dup (ANKH) MANE Select | NP_473368.1:n.*28_*50dup |