Linked Data
dbSNP Id:
rs1299019260
gnomAD v2:
11-61160222-CCTCCATT-C
gnomAD v3:
11-61392750-CCTCCATT-C
gnomAD v4:
11-61392750-CCTCCATT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61392754_61392760del , CM000673.2:g.61392754_61392760del | GRCh38 |
| NC_000011.9:g.61160226_61160232del , CM000673.1:g.61160226_61160232del | GRCh37 |
| NC_000011.8:g.60916802_60916808del | NCBI36 |
| NG_032976.1:g.5395_5401del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334888.10:c.34+89_34+95del | ENSP00000334844.5:n.34+89_34+95del | |
| ENST00000544795.6:n.168_174del | ||
| ENST00000684926.1:n.50+75_50+81del | ||
| ENST00000688959.1:c.-226+75_-226+81del | ENSP00000509213.1:n.-226+75_-226+81del | |
| ENST00000690736.1:c.34+89_34+95del | ENSP00000508542.1:n.34+89_34+95del | |
| ENST00000515837.7:c.34+89_34+95del MANE Select | ENSP00000440638.1:n.34+89_34+95del | |
| ENST00000334888.9:c.34+89_34+95del | ENSP00000334844.5:n.34+89_34+95del | |
| ENST00000398979.7:c.-150+75_-150+81del | ENSP00000381950.3:n.-150+75_-150+81del | |
| ENST00000515837.6:c.34+89_34+95del | ENSP00000440638.1:n.34+89_34+95del | |
| ENST00000541473.1:n.48+75_48+81del | ||
| ENST00000544795.5:n.50+75_50+81del | ||
| NM_001173990.2:c.34+89_34+95del | NP_001167461.1:n.34+89_34+95del | |
| NM_001173991.2:c.34+89_34+95del | NP_001167462.1:n.34+89_34+95del | |
| NM_016499.5:c.-150+75_-150+81del | NP_057583.2:n.-150+75_-150+81del | |
| XM_005274039.3:c.-283-10_-283-4del | XP_005274096.1:n.-283-10_-283-4del | |
| NM_001330285.1:c.-150+75_-150+81del | NP_001317214.1:n.-150+75_-150+81del | |
| XM_005274039.4:c.-283-10_-283-4del | XP_005274096.1:n.-283-10_-283-4del | |
| NM_001173990.3:c.34+89_34+95del MANE Select | NP_001167461.1:n.34+89_34+95del | |
| NM_001173991.3:c.34+89_34+95del | NP_001167462.1:n.34+89_34+95del | |
| NM_001330285.2:c.-150+75_-150+81del | NP_001317214.1:n.-150+75_-150+81del | |
| NM_016499.6:c.-150+75_-150+81del | NP_057583.2:n.-150+75_-150+81del |