Linked Data
dbSNP Id:
rs1187460081
gnomAD v2:
16-16249083-T-TTCTC
gnomAD v3:
16-16155226-T-TTCTC
gnomAD v4:
16-16155226-T-TTCTC
MyVariant Identifiers:
chr16:g.16249083_16249084insTCTC (hg19)
chr16:g.16155226_16155227insTCTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16155228_16155231dup , CM000678.2:g.16155228_16155231dup | GRCh38 |
| NC_000016.9:g.16249085_16249088dup , CM000678.1:g.16249085_16249088dup | GRCh37 |
| NC_000016.8:g.16156586_16156589dup | NCBI36 |
| NG_007558.2:g.73242_73245dup | |
| NG_007558.3:g.73388_73391dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000576204.6:n.547_550dup | ||
| ENST00000622290.5:c.*55-199_*55-196dup | ENSP00000483331.2:n.*55-199_*55-196dup | |
| ENST00000205557.12:c.3883-199_3883-196dup MANE Select | ENSP00000205557.7:n.3883-199_3883-196dup | |
| ENST00000640696.1:c.697-199_697-196dup | ENSP00000492197.1:n.697-199_697-196dup | |
| ENST00000205557.11:c.3883-199_3883-196dup | ENSP00000205557.7:n.3883-199_3883-196dup | |
| ENST00000456970.6:c.3508-199_3508-196dup | ENSP00000405002.2:n.3508-199_3508-196dup | |
| ENST00000576204.5:n.547_550dup | ||
| ENST00000622290.4:c.*1092-199_*1092-196dup | ENSP00000483331.1:n.*1092-199_*1092-196dup | |
| NM_001171.5:c.3883-199_3883-196dup | NP_001162.4:n.3883-199_3883-196dup | |
| XM_011522479.1:c.3850-199_3850-196dup | XP_011520781.1:n.3850-199_3850-196dup | |
| XM_011522480.1:c.3541-199_3541-196dup | XP_011520782.1:n.3541-199_3541-196dup | |
| XM_011522481.1:c.3541-199_3541-196dup | XP_011520783.1:n.3541-199_3541-196dup | |
| XR_932836.1:n.4181-199_4181-196dup | ||
| XR_932837.1:n.3919-199_3919-196dup | ||
| XR_932838.1:n.3982-199_3982-196dup | ||
| XR_933134.1:n.539-4553_539-4550dup | ||
| NM_001351800.1:c.3541-199_3541-196dup | NP_001338729.1:n.3541-199_3541-196dup | |
| NR_147784.1:n.3545-199_3545-196dup | ||
| XM_011522479.2:c.3850-199_3850-196dup | XP_011520781.1:n.3850-199_3850-196dup | |
| XM_011522481.3:c.3541-199_3541-196dup | XP_011520783.1:n.3541-199_3541-196dup | |
| XM_017023212.1:c.3715-199_3715-196dup | XP_016878701.1:n.3715-199_3715-196dup | |
| XM_024450261.1:c.3919-199_3919-196dup | XP_024306029.1:n.3919-199_3919-196dup | |
| XR_932836.2:n.4127-199_4127-196dup | ||
| XR_932837.3:n.3864-199_3864-196dup | ||
| XR_932838.3:n.3927-199_3927-196dup | ||
| NM_001171.6:c.3883-199_3883-196dup MANE Select | NP_001162.5:n.3883-199_3883-196dup |