Linked Data
dbSNP Id:
rs1022364671
gnomAD v2:
16-16249088-T-TATC
gnomAD v3:
16-16155231-T-TATC
gnomAD v4:
16-16155231-T-TATC
MyVariant Identifiers:
chr16:g.16249088_16249089insATC (hg19)
chr16:g.16155231_16155232insATC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16155232_16155234dup , CM000678.2:g.16155232_16155234dup | GRCh38 |
| NC_000016.9:g.16249089_16249091dup , CM000678.1:g.16249089_16249091dup | GRCh37 |
| NC_000016.8:g.16156590_16156592dup | NCBI36 |
| NG_007558.2:g.73238_73240dup | |
| NG_007558.3:g.73384_73386dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000576204.6:n.543_545dup | ||
| ENST00000622290.5:c.*55-203_*55-201dup | ENSP00000483331.2:n.*55-203_*55-201dup | |
| ENST00000205557.12:c.3883-203_3883-201dup MANE Select | ENSP00000205557.7:n.3883-203_3883-201dup | |
| ENST00000640696.1:c.697-203_697-201dup | ENSP00000492197.1:n.697-203_697-201dup | |
| ENST00000205557.11:c.3883-203_3883-201dup | ENSP00000205557.7:n.3883-203_3883-201dup | |
| ENST00000456970.6:c.3508-203_3508-201dup | ENSP00000405002.2:n.3508-203_3508-201dup | |
| ENST00000576204.5:n.543_545dup | ||
| ENST00000622290.4:c.*1092-203_*1092-201dup | ENSP00000483331.1:n.*1092-203_*1092-201dup | |
| NM_001171.5:c.3883-203_3883-201dup | NP_001162.4:n.3883-203_3883-201dup | |
| XM_011522479.1:c.3850-203_3850-201dup | XP_011520781.1:n.3850-203_3850-201dup | |
| XM_011522480.1:c.3541-203_3541-201dup | XP_011520782.1:n.3541-203_3541-201dup | |
| XM_011522481.1:c.3541-203_3541-201dup | XP_011520783.1:n.3541-203_3541-201dup | |
| XR_932836.1:n.4181-203_4181-201dup | ||
| XR_932837.1:n.3919-203_3919-201dup | ||
| XR_932838.1:n.3982-203_3982-201dup | ||
| XR_933134.1:n.539-4549_539-4547dup | ||
| NM_001351800.1:c.3541-203_3541-201dup | NP_001338729.1:n.3541-203_3541-201dup | |
| NR_147784.1:n.3545-203_3545-201dup | ||
| XM_011522479.2:c.3850-203_3850-201dup | XP_011520781.1:n.3850-203_3850-201dup | |
| XM_011522481.3:c.3541-203_3541-201dup | XP_011520783.1:n.3541-203_3541-201dup | |
| XM_017023212.1:c.3715-203_3715-201dup | XP_016878701.1:n.3715-203_3715-201dup | |
| XM_024450261.1:c.3919-203_3919-201dup | XP_024306029.1:n.3919-203_3919-201dup | |
| XR_932836.2:n.4127-203_4127-201dup | ||
| XR_932837.3:n.3864-203_3864-201dup | ||
| XR_932838.3:n.3927-203_3927-201dup | ||
| NM_001171.6:c.3883-203_3883-201dup MANE Select | NP_001162.5:n.3883-203_3883-201dup |