Linked Data
ClinVar Variation Id:
353370
ClinVar RCV Id:
RCV000374694
dbSNP Id:
rs567891305
gnomAD v2:
5-36877200-A-AC
gnomAD v3:
5-36877098-A-AC
gnomAD v4:
5-36877098-A-AC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.36877105dup , CM000667.2:g.36877105dup | GRCh38 |
| NC_000005.9:g.36877207dup , CM000667.1:g.36877207dup | GRCh37 |
| NC_000005.8:g.36912964dup | NCBI36 |
| NG_006987.1:g.5223dup | |
| NG_006987.2:g.5223dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000282516.13:c.-153dup MANE Select | ENSP00000282516.8:n.-153dup | |
| ENST00000652901.1:c.-153dup | ENSP00000499536.1:n.-153dup | |
| ENST00000282516.12:c.-153dup | ENSP00000282516.8:n.-153dup | |
| ENST00000448238.2:c.-153dup | ENSP00000406266.2:n.-153dup | |
| ENST00000621733.1:c.-1+83dup | ENSP00000480694.1:n.-1+83dup | |
| NM_015384.4:c.-153dup | NP_056199.2:n.-153dup | |
| NM_133433.3:c.-153dup | NP_597677.2:n.-153dup | |
| XM_005248280.2:c.-153dup | XP_005248337.1:n.-153dup | |
| XM_006714467.2:c.-153dup | XP_006714530.1:n.-153dup | |
| XM_006714468.1:c.-153dup | XP_006714531.1:n.-153dup | |
| XM_011514014.1:c.-153dup | XP_011512316.1:n.-153dup | |
| XM_011514015.1:c.-153dup | XP_011512317.1:n.-153dup | |
| XM_005248280.3:c.-153dup | XP_005248337.1:n.-153dup | |
| XM_006714468.2:c.-153dup | XP_006714531.1:n.-153dup | |
| XM_017009329.1:c.-153dup | XP_016864818.1:n.-153dup | |
| XM_017009331.1:c.-153dup | XP_016864820.1:n.-153dup | |
| NM_133433.4:c.-153dup MANE Select | NP_597677.2:n.-153dup | |
| NM_015384.5:c.-153dup | NP_056199.2:n.-153dup |