Linked Data
dbSNP Id:
rs1364374141
gnomAD v2:
5-36958042-A-ACCAT
gnomAD v3:
5-36957940-A-ACCAT
gnomAD v4:
5-36957940-A-ACCAT
MyVariant Identifiers:
chr5:g.36958042_36958043insCCAT (hg19)
chr5:g.36957940_36957941insCCAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.36957941_36957944dup , CM000667.2:g.36957941_36957944dup | GRCh38 |
| NC_000005.9:g.36958043_36958046dup , CM000667.1:g.36958043_36958046dup | GRCh37 |
| NC_000005.8:g.36993800_36993803dup | NCBI36 |
| NG_006987.1:g.86059_86062dup | |
| NG_006987.2:g.86059_86062dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282516.13:c.231-163_231-160dup MANE Select | ENSP00000282516.8:n.231-163_231-160dup | |
| ENST00000652901.1:c.231-163_231-160dup | ENSP00000499536.1:n.231-163_231-160dup | |
| ENST00000282516.12:c.231-163_231-160dup | ENSP00000282516.8:n.231-163_231-160dup | |
| ENST00000448238.2:c.231-163_231-160dup | ENSP00000406266.2:n.231-163_231-160dup | |
| ENST00000505998.5:n.210-163_210-160dup | ||
| ENST00000621733.1:c.-1+80919_-1+80922dup | ENSP00000480694.1:n.-1+80919_-1+80922dup | |
| NM_015384.4:c.231-163_231-160dup | NP_056199.2:n.231-163_231-160dup | |
| NM_133433.3:c.231-163_231-160dup | NP_597677.2:n.231-163_231-160dup | |
| XM_005248280.2:c.231-163_231-160dup | XP_005248337.1:n.231-163_231-160dup | |
| XM_006714467.2:c.231-163_231-160dup | XP_006714530.1:n.231-163_231-160dup | |
| XM_006714468.1:c.231-163_231-160dup | XP_006714531.1:n.231-163_231-160dup | |
| XM_011514014.1:c.231-163_231-160dup | XP_011512316.1:n.231-163_231-160dup | |
| XM_011514015.1:c.231-163_231-160dup | XP_011512317.1:n.231-163_231-160dup | |
| XM_005248280.3:c.231-163_231-160dup | XP_005248337.1:n.231-163_231-160dup | |
| XM_006714468.2:c.231-163_231-160dup | XP_006714531.1:n.231-163_231-160dup | |
| XM_017009329.1:c.231-163_231-160dup | XP_016864818.1:n.231-163_231-160dup | |
| XM_017009331.1:c.231-163_231-160dup | XP_016864820.1:n.231-163_231-160dup | |
| NM_133433.4:c.231-163_231-160dup MANE Select | NP_597677.2:n.231-163_231-160dup | |
| NM_015384.5:c.231-163_231-160dup | NP_056199.2:n.231-163_231-160dup |