Linked Data
dbSNP Id:
rs1369508224
MyVariant Identifiers:
chr5:g.180030489_180030490insTGGC (hg19)
chr5:g.180603489_180603490insTGGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.180603491_180603494dup , CM000667.2:g.180603491_180603494dup | GRCh38 |
| NC_000005.9:g.180030491_180030494dup , CM000667.1:g.180030491_180030494dup | GRCh37 |
| NC_000005.8:g.179963097_179963100dup | NCBI36 |
| NG_011536.1:g.51132_51135dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261937.11:c.3894-103_3894-100dup MANE Select | ENSP00000261937.6:n.3894-103_3894-100dup | |
| ENST00000261937.10:c.3894-103_3894-100dup | ENSP00000261937.6:n.3894-103_3894-100dup | |
| ENST00000502603.5:n.594-103_594-100dup | ||
| NM_182925.4:c.3894-103_3894-100dup | NP_891555.2:n.3894-103_3894-100dup | |
| XM_011534477.1:c.4143-103_4143-100dup | XP_011532779.1:n.4143-103_4143-100dup | |
| XM_011534478.1:c.4125-103_4125-100dup | XP_011532780.1:n.4125-103_4125-100dup | |
| XM_011534479.1:c.*40-103_*40-100dup | XP_011532781.1:n.*40-103_*40-100dup | |
| XM_011534482.1:c.3912-103_3912-100dup | XP_011532784.1:n.3912-103_3912-100dup | |
| XM_011534483.1:c.3834-103_3834-100dup | XP_011532785.1:n.3834-103_3834-100dup | |
| XM_011534484.1:c.3435-103_3435-100dup | XP_011532786.1:n.3435-103_3435-100dup | |
| XR_941095.1:n.4180-103_4180-100dup | ||
| XM_011534478.3:c.4125-103_4125-100dup | XP_011532780.1:n.4125-103_4125-100dup | |
| XM_011534484.2:c.3435-103_3435-100dup | XP_011532786.1:n.3435-103_3435-100dup | |
| XM_017009263.1:c.*40-103_*40-100dup | XP_016864752.1:n.*40-103_*40-100dup | |
| XM_017009268.1:c.3816-103_3816-100dup | XP_016864757.1:n.3816-103_3816-100dup | |
| XR_001742050.2:n.4384-103_4384-100dup | ||
| NM_182925.5:c.3894-103_3894-100dup MANE Select | NP_891555.2:n.3894-103_3894-100dup |