Linked Data
dbSNP Id:
rs966546189
gnomAD v3:
5-14716515-T-TAAAA
gnomAD v4:
5-14716515-T-TAAAA
MyVariant Identifiers:
chr5:g.14716624_14716625insAAAA (hg19)
chr5:g.14716515_14716516insAAAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14716516_14716519dup , CM000667.2:g.14716516_14716519dup | GRCh38 |
| NC_000005.9:g.14716625_14716628dup , CM000667.1:g.14716625_14716628dup | GRCh37 |
| NC_000005.8:g.14769625_14769628dup | NCBI36 |
| NG_008273.1:g.160260_160263dup | |
| NG_008273.2:g.160267_160270dup | |
| NG_051625.1:g.60723_60726dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.1141+187_1141+190dup (ANKH) MANE Select | ENSP00000284268.6:n.1141+187_1141+190dup | |
| ENST00000284268.6:c.1141+187_1141+190dup (ANKH) | ENSP00000284268.6:n.1141+187_1141+190dup | |
| ENST00000502585.1:n.383+187_383+190dup (ANKH) | ||
| NM_054027.4:c.1141+187_1141+190dup (ANKH) | NP_473368.1:n.1141+187_1141+190dup | |
| NR_046285.1:n.2586_2589dup | ||
| NM_054027.5:c.1141+187_1141+190dup (ANKH) | NP_473368.1:n.1141+187_1141+190dup | |
| XM_011514151.2:c.*3841_*3844dup (OTULIN) | XP_011512453.1:n.*3841_*3844dup | |
| XM_017009644.2:c.1057+187_1057+190dup (ANKH) | XP_016865133.1:n.1057+187_1057+190dup | |
| NM_054027.6:c.1141+187_1141+190dup (ANKH) MANE Select | NP_473368.1:n.1141+187_1141+190dup |