Linked Data
dbSNP Id:
rs1450877942
gnomAD v2:
5-1275515-A-AAAAG
gnomAD v3:
5-1275400-A-AAAAG
gnomAD v4:
5-1275400-A-AAAAG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1275409_1275412dup , CM000667.2:g.1275409_1275412dup | GRCh38 |
| NC_000005.9:g.1275524_1275527dup , CM000667.1:g.1275524_1275527dup | GRCh37 |
| NC_000005.8:g.1328524_1328527dup | NCBI36 |
| NG_009265.1:g.24644_24647dup , LRG_343:g.24644_24647dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310581.10:c.2287-3124_2287-3121dup MANE Select | ENSP00000309572.5:n.2287-3124_2287-3121dup | |
| ENST00000656021.1:c.*1833-3124_*1833-3121dup | ENSP00000499759.1:n.*1833-3124_*1833-3121dup | |
| ENST00000310581.9:c.2287-3124_2287-3121dup | ENSP00000309572.5:n.2287-3124_2287-3121dup | |
| ENST00000334602.10:c.2287-3124_2287-3121dup | ENSP00000334346.6:n.2287-3124_2287-3121dup | |
| ENST00000460137.6:c.2250+3237_2250+3240dup | ENSP00000425003.1:n.2250+3237_2250+3240dup | |
| ENST00000484238.6:n.1099+3237_1099+3240dup | ||
| ENST00000508104.2:c.2286+3237_2286+3240dup | ENSP00000426042.2:n.2286+3237_2286+3240dup | |
| NM_001193376.1:c.2287-3124_2287-3121dup | NP_001180305.1:n.2287-3124_2287-3121dup | |
| NM_198253.2:c.2287-3124_2287-3121dup , LRG_343t1:c.2287-3124_2287-3121dup | NP_937983.2:n.2287-3124_2287-3121dup | |
| XM_011514104.1:c.757-3124_757-3121dup | XP_011512406.1:n.757-3124_757-3121dup | |
| XM_011514105.1:c.643-3124_643-3121dup | XP_011512407.1:n.643-3124_643-3121dup | |
| XM_011514106.1:c.643-3124_643-3121dup | XP_011512408.1:n.643-3124_643-3121dup | |
| NR_149162.1:n.2344+3237_2344+3240dup | ||
| NR_149163.1:n.2308+3237_2308+3240dup | ||
| NM_001193376.2:c.2287-3124_2287-3121dup | NP_001180305.1:n.2287-3124_2287-3121dup | |
| NM_198253.3:c.2287-3124_2287-3121dup MANE Select | NP_937983.2:n.2287-3124_2287-3121dup | |
| NR_149162.2:n.2365+3237_2365+3240dup | ||
| NR_149163.2:n.2329+3237_2329+3240dup | ||
| NM_001193376.3:c.2287-3124_2287-3121dup | NP_001180305.1:n.2287-3124_2287-3121dup | |
| NR_149162.3:n.2365+3237_2365+3240dup | ||
| NR_149163.3:n.2329+3237_2329+3240dup |