Linked Data
dbSNP Id:
rs554050931
gnomAD v2:
5-14716506-CAGG-C
gnomAD v3:
5-14716397-CAGG-C
gnomAD v4:
5-14716397-CAGG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14716400_14716402del , CM000667.2:g.14716400_14716402del | GRCh38 |
| NC_000005.9:g.14716509_14716511del , CM000667.1:g.14716509_14716511del | GRCh37 |
| NC_000005.8:g.14769509_14769511del | NCBI36 |
| NG_008273.1:g.160379_160381del | |
| NG_008273.2:g.160386_160388del | |
| NG_051625.1:g.60607_60609del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.1141+306_1141+308del (ANKH) MANE Select | ENSP00000284268.6:n.1141+306_1141+308del | |
| ENST00000284268.6:c.1141+306_1141+308del (ANKH) | ENSP00000284268.6:n.1141+306_1141+308del | |
| ENST00000502585.1:n.383+306_383+308del (ANKH) | ||
| NM_054027.4:c.1141+306_1141+308del (ANKH) | NP_473368.1:n.1141+306_1141+308del | |
| NR_046285.1:n.2492-22_2492-20del | ||
| NM_054027.5:c.1141+306_1141+308del (ANKH) | NP_473368.1:n.1141+306_1141+308del | |
| XM_011514151.2:c.*3725_*3727del (OTULIN) | XP_011512453.1:n.*3725_*3727del | |
| XM_017009644.2:c.1057+306_1057+308del (ANKH) | XP_016865133.1:n.1057+306_1057+308del | |
| NM_054027.6:c.1141+306_1141+308del (ANKH) MANE Select | NP_473368.1:n.1141+306_1141+308del |