Linked Data
dbSNP Id:
rs1247635974
gnomAD v2:
2-103057881-GAGCAGGTCTA-G
gnomAD v4:
2-102441421-GAGCAGGTCTA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.102441424_102441433del , CM000664.2:g.102441424_102441433del | GRCh38 |
| NC_000002.11:g.103057884_103057893del , CM000664.1:g.103057884_103057893del | GRCh37 |
| NC_000002.10:g.102424316_102424325del | NCBI36 |
| NG_011481.1:g.27631_27640del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000687160.1:c.796+47_796+56del MANE Select | ENSP00000510345.1:n.796+47_796+56del | |
| ENST00000264260.6:c.796+47_796+56del | ENSP00000264260.2:n.796+47_796+56del | |
| ENST00000409369.1:c.370+47_370+56del | ENSP00000387201.1:n.370+47_370+56del | |
| NM_003853.3:c.796+47_796+56del | NP_003844.1:n.796+47_796+56del | |
| XM_011512087.1:c.370+47_370+56del | XP_011510389.1:n.370+47_370+56del | |
| XM_011512088.1:c.370+47_370+56del | XP_011510390.1:n.370+47_370+56del | |
| XM_011512089.1:c.796+47_796+56del | XP_011510391.1:n.796+47_796+56del | |
| XR_923052.1:n.1133+47_1133+56del | ||
| XM_011512087.2:c.370+47_370+56del | XP_011510389.1:n.370+47_370+56del | |
| XM_011512088.2:c.370+47_370+56del | XP_011510390.1:n.370+47_370+56del | |
| XM_024453197.1:c.796+47_796+56del | XP_024308965.1:n.796+47_796+56del | |
| XM_024453198.1:c.796+47_796+56del | XP_024308966.1:n.796+47_796+56del | |
| XM_024453199.1:c.796+47_796+56del | XP_024308967.1:n.796+47_796+56del | |
| XM_024453200.1:c.796+47_796+56del | XP_024308968.1:n.796+47_796+56del | |
| XM_024453201.1:c.796+47_796+56del | XP_024308969.1:n.796+47_796+56del | |
| XR_001739011.2:n.1131+47_1131+56del | ||
| NM_001393486.1:c.796+47_796+56del | NP_001380415.1:n.796+47_796+56del | |
| NM_001393487.1:c.796+47_796+56del MANE Select | NP_001380416.1:n.796+47_796+56del | |
| NM_001393488.1:c.370+47_370+56del | NP_001380417.1:n.370+47_370+56del | |
| NM_001393489.1:c.370+47_370+56del | NP_001380418.1:n.370+47_370+56del | |
| NM_003853.4:c.796+47_796+56del | NP_003844.1:n.796+47_796+56del |