Linked Data
dbSNP Id:
rs947894042
gnomAD v2:
5-13769461-GT-G
gnomAD v3:
5-13769352-GT-G
gnomAD v4:
5-13769352-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13769358del , CM000667.2:g.13769358del | GRCh38 |
| NC_000005.9:g.13769467del , CM000667.1:g.13769467del | GRCh37 |
| NC_000005.8:g.13822467del | NCBI36 |
| NG_013081.1:g.180128del | |
| NG_013081.2:g.180128del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.9720+148del MANE Select | ENSP00000265104.4:n.9720+148del | |
| ENST00000681290.1:c.9675+148del | ENSP00000505288.1:n.9675+148del | |
| ENST00000265104.4:c.9720+148del | ENSP00000265104.4:n.9720+148del | |
| ENST00000504001.3:n.432+148del | ||
| NM_001369.2:c.9720+148del | NP_001360.1:n.9720+148del | |
| XM_005248262.2:c.9675+148del | XP_005248319.1:n.9675+148del | |
| XM_005248262.3:c.9828+148del | XP_005248319.2:n.9828+148del | |
| XM_017009177.1:c.9828+148del | XP_016864666.1:n.9828+148del | |
| XM_017009178.1:c.8733+148del | XP_016864667.1:n.8733+148del | |
| XM_017009179.2:c.8733+148del | XP_016864668.1:n.8733+148del | |
| XM_017009180.1:c.9828+148del | XP_016864669.1:n.9828+148del | |
| XM_017009181.1:c.9828+148del | XP_016864670.1:n.9828+148del | |
| XM_017009182.1:c.9828+148del | XP_016864671.1:n.9828+148del | |
| XM_017009185.1:c.4917+148del | XP_016864674.1:n.4917+148del | |
| XM_017009186.1:c.4470+148del | XP_016864675.1:n.4470+148del | |
| XM_017009188.1:c.3807+148del | XP_016864677.1:n.3807+148del | |
| XM_024454388.1:c.8733+148del | XP_024310156.1:n.8733+148del | |
| XM_024454389.1:c.8322+148del | XP_024310157.1:n.8322+148del | |
| NM_001369.3:c.9720+148del MANE Select | NP_001360.1:n.9720+148del |