Linked Data
dbSNP Id:
rs762793640
gnomAD v2:
17-42985643-AGAGAGCCTAGGCTCTTCCAAACGGGCTG-A
gnomAD v3:
17-44908275-AGAGAGCCTAGGCTCTTCCAAACGGGCTG-A
gnomAD v4:
17-44908275-AGAGAGCCTAGGCTCTTCCAAACGGGCTG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44908283_44908310del , CM000679.2:g.44908283_44908310del | GRCh38 |
| NC_000017.10:g.42985651_42985678del , CM000679.1:g.42985651_42985678del | GRCh37 |
| NC_000017.9:g.40341177_40341204del | NCBI36 |
| NG_008401.1:g.12244_12271del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253408.11:c.1292-154_1292-127del | ENSP00000253408.5:n.1292-154_1292-127del | |
| ENST00000253408.10:c.1292-154_1292-127del | ENSP00000253408.5:n.1292-154_1292-127del | |
| ENST00000441312.2:n.25-154_25-127del | ||
| ENST00000585543.6:n.325-154_325-127del | ||
| ENST00000586125.2:c.107-154_107-127del | ENSP00000467397.2:n.107-154_107-127del | |
| ENST00000588735.3:c.1172-154_1172-127del MANE Select | ENSP00000466598.2:n.1172-154_1172-127del | |
| ENST00000589701.2:n.1925_1952del | ||
| ENST00000591880.2:c.271-154_271-127del | ||
| ENST00000592065.2:n.386_413del | ||
| ENST00000638304.1:c.91-154_91-127del | ||
| ENST00000638400.1:c.7-154_7-127del | ||
| ENST00000638488.1:n.636-154_636-127del | ||
| ENST00000638618.1:c.827-154_827-127del | ENSP00000492832.1:n.827-154_827-127del | |
| ENST00000639042.1:c.144-154_144-127del | ||
| ENST00000639277.1:c.1172-154_1172-127del | ENSP00000492432.1:n.1172-154_1172-127del | |
| ENST00000639369.1:c.22-154_22-127del | ||
| ENST00000640552.1:n.3497_3524del | ||
| ENST00000253408.9:c.1172-154_1172-127del | ENSP00000253408.4:n.1172-154_1172-127del | |
| ENST00000585543.5:n.325-154_325-127del | ||
| ENST00000586125.1:c.143-154_143-127del | ENSP00000467397.1:n.143-154_143-127del | |
| ENST00000588640.5:n.552-154_552-127del | ||
| ENST00000588735.1:c.83-187_83-160del | ENSP00000466598.1:n.83-187_83-160del | |
| ENST00000591880.1:c.38-154_38-127del | ENSP00000467530.1:n.38-154_38-127del | |
| ENST00000592706.5:n.44-154_44-127del | ||
| NM_002055.4:c.1172-154_1172-127del | NP_002046.1:n.1172-154_1172-127del | |
| NM_001363846.1:c.1292-154_1292-127del | NP_001350775.1:n.1292-154_1292-127del | |
| XM_024450690.1:c.1496-154_1496-127del | XP_024306458.1:n.1496-154_1496-127del | |
| XM_024450692.1:c.1376-154_1376-127del | XP_024306460.1:n.1376-154_1376-127del | |
| NM_002055.5:c.1172-154_1172-127del MANE Select | NP_002046.1:n.1172-154_1172-127del | |
| NM_001242376.2:c.*2166_*2193del | NP_001229305.1:n.*2166_*2193del | |
| NM_001363846.2:c.1292-154_1292-127del | NP_001350775.1:n.1292-154_1292-127del |