Linked Data
dbSNP Id:
rs201689662
gnomAD v2:
5-13701314-AG-A
gnomAD v3:
5-13701205-AG-A
gnomAD v4:
5-13701205-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13701206del , CM000667.2:g.13701206del | GRCh38 |
| NC_000005.9:g.13701315del , CM000667.1:g.13701315del | GRCh37 |
| NC_000005.8:g.13754315del | NCBI36 |
| NG_013081.1:g.248275del | |
| NG_013081.2:g.248275del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683611.1:n.824+78del | ||
| ENST00000265104.5:c.13491+78del MANE Select | ENSP00000265104.4:n.13491+78del | |
| ENST00000681290.1:c.13446+78del | ENSP00000505288.1:n.13446+78del | |
| ENST00000265104.4:c.13491+78del | ENSP00000265104.4:n.13491+78del | |
| NM_001369.2:c.13491+78del | NP_001360.1:n.13491+78del | |
| XM_005248262.2:c.13446+78del | XP_005248319.1:n.13446+78del | |
| XM_005248262.3:c.13599+78del | XP_005248319.2:n.13599+78del | |
| XM_017009177.1:c.13179+78del | XP_016864666.1:n.13179+78del | |
| XM_017009178.1:c.12504+78del | XP_016864667.1:n.12504+78del | |
| XM_017009179.2:c.12504+78del | XP_016864668.1:n.12504+78del | |
| XM_017009185.1:c.8688+78del | XP_016864674.1:n.8688+78del | |
| XM_017009186.1:c.8241+78del | XP_016864675.1:n.8241+78del | |
| XM_017009188.1:c.7578+78del | XP_016864677.1:n.7578+78del | |
| XM_024454388.1:c.12504+78del | XP_024310156.1:n.12504+78del | |
| XM_024454389.1:c.12093+78del | XP_024310157.1:n.12093+78del | |
| NM_001369.3:c.13491+78del MANE Select | NP_001360.1:n.13491+78del |