Linked Data
dbSNP Id:
rs1303144083
gnomAD v2:
5-37021012-A-ATTGATTT
gnomAD v3:
5-37020910-A-ATTGATTT
gnomAD v4:
5-37020910-A-ATTGATTT
MyVariant Identifiers:
chr5:g.37021012_37021013insTTGATTT (hg19)
chr5:g.37020910_37020911insTTGATTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37020913_37020919dup , CM000667.2:g.37020913_37020919dup | GRCh38 |
| NC_000005.9:g.37021015_37021021dup , CM000667.1:g.37021015_37021021dup | GRCh37 |
| NC_000005.8:g.37056772_37056778dup | NCBI36 |
| NG_006987.1:g.149031_149037dup | |
| NG_006987.2:g.149031_149037dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282516.13:c.5328+36_5328+42dup MANE Select | ENSP00000282516.8:n.5328+36_5328+42dup | |
| ENST00000652901.1:c.5328+36_5328+42dup | ENSP00000499536.1:n.5328+36_5328+42dup | |
| ENST00000282516.12:c.5328+36_5328+42dup | ENSP00000282516.8:n.5328+36_5328+42dup | |
| ENST00000448238.2:c.5328+36_5328+42dup | ENSP00000406266.2:n.5328+36_5328+42dup | |
| ENST00000621733.1:c.1-43665_1-43659dup | ENSP00000480694.1:n.1-43665_1-43659dup | |
| NM_015384.4:c.5328+36_5328+42dup | NP_056199.2:n.5328+36_5328+42dup | |
| NM_133433.3:c.5328+36_5328+42dup | NP_597677.2:n.5328+36_5328+42dup | |
| XM_005248280.2:c.5328+36_5328+42dup | XP_005248337.1:n.5328+36_5328+42dup | |
| XM_005248282.3:c.4584+36_4584+42dup | XP_005248339.2:n.4584+36_4584+42dup | |
| XM_006714467.2:c.5328+36_5328+42dup | XP_006714530.1:n.5328+36_5328+42dup | |
| XM_006714468.1:c.5130+36_5130+42dup | XP_006714531.1:n.5130+36_5130+42dup | |
| XM_011514014.1:c.4947+36_4947+42dup | XP_011512316.1:n.4947+36_4947+42dup | |
| XM_011514015.1:c.5328+36_5328+42dup | XP_011512317.1:n.5328+36_5328+42dup | |
| XM_005248280.3:c.5328+36_5328+42dup | XP_005248337.1:n.5328+36_5328+42dup | |
| XM_005248282.5:c.4668+36_4668+42dup | XP_005248339.3:n.4668+36_4668+42dup | |
| XM_006714468.2:c.5130+36_5130+42dup | XP_006714531.1:n.5130+36_5130+42dup | |
| XM_017009329.1:c.5328+36_5328+42dup | XP_016864818.1:n.5328+36_5328+42dup | |
| XM_017009330.2:c.3711+36_3711+42dup | XP_016864819.1:n.3711+36_3711+42dup | |
| XM_017009331.1:c.3702+36_3702+42dup | XP_016864820.1:n.3702+36_3702+42dup | |
| NM_133433.4:c.5328+36_5328+42dup MANE Select | NP_597677.2:n.5328+36_5328+42dup | |
| NM_015384.5:c.5328+36_5328+42dup | NP_056199.2:n.5328+36_5328+42dup |