Linked Data
dbSNP Id:
rs1157433102
gnomAD v3:
9-137813341-C-CAG
gnomAD v4:
9-137813341-C-CAG
MyVariant Identifiers:
chr9:g.140707793_140707794insAG (hg19)
chr9:g.137813341_137813342insAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137813344_137813345dup , CM000671.2:g.137813344_137813345dup | GRCh38 |
| NC_000009.11:g.140707796_140707797dup , CM000671.1:g.140707796_140707797dup | GRCh37 |
| NC_000009.10:g.139827617_139827618dup | NCBI36 |
| NG_011776.1:g.199353_199354dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460843.6:c.3036-42_3036-41dup MANE Select | ENSP00000417980.1:n.3036-42_3036-41dup | |
| ENST00000636027.1:c.2922-42_2922-41dup | ENSP00000489961.1:n.2922-42_2922-41dup | |
| ENST00000637161.1:c.2943-42_2943-41dup | ENSP00000490328.1:n.2943-42_2943-41dup | |
| ENST00000637261.1:c.3076-42_3076-41dup | ENSP00000490815.1:n.3076-42_3076-41dup | |
| ENST00000637891.1:c.930-42_930-41dup | ENSP00000490907.1:n.930-42_930-41dup | |
| ENST00000460843.5:c.3036-42_3036-41dup | ENSP00000417980.1:n.3036-42_3036-41dup | |
| ENST00000462942.3:c.1893-42_1893-41dup | ENSP00000436107.1:n.1893-42_1893-41dup | |
| ENST00000486164.5:c.723-42_723-41dup | ||
| ENST00000488242.2:n.562-42_562-41dup | ||
| NM_024757.4:c.3036-42_3036-41dup | NP_079033.4:n.3036-42_3036-41dup | |
| XM_005266105.3:c.3027-42_3027-41dup | XP_005266162.1:n.3027-42_3027-41dup | |
| XM_005266110.1:c.2943-42_2943-41dup | XP_005266167.1:n.2943-42_2943-41dup | |
| XM_006717288.2:c.3018-42_3018-41dup | XP_006717351.1:n.3018-42_3018-41dup | |
| XM_011519021.1:c.3045-42_3045-41dup | XP_011517323.1:n.3045-42_3045-41dup | |
| XM_011519022.1:c.3042-42_3042-41dup | XP_011517324.1:n.3042-42_3042-41dup | |
| XM_011519023.1:c.3024-42_3024-41dup | XP_011517325.1:n.3024-42_3024-41dup | |
| XM_011519024.1:c.2967-42_2967-41dup | XP_011517326.1:n.2967-42_2967-41dup | |
| XM_011519025.1:c.2943-42_2943-41dup | XP_011517327.1:n.2943-42_2943-41dup | |
| XM_011519026.1:c.2901-42_2901-41dup | XP_011517328.1:n.2901-42_2901-41dup | |
| XM_011519029.1:c.1467-42_1467-41dup | XP_011517331.1:n.1467-42_1467-41dup | |
| XM_011519030.1:c.819-42_819-41dup | XP_011517332.1:n.819-42_819-41dup | |
| XM_011519031.1:c.606-42_606-41dup | XP_011517333.1:n.606-42_606-41dup | |
| XM_011519032.1:c.606-42_606-41dup | XP_011517334.1:n.606-42_606-41dup | |
| XM_011519033.1:c.2880-42_2880-41dup | XP_011517335.1:n.2880-42_2880-41dup | |
| NM_001354263.1:c.3015-42_3015-41dup | NP_001341192.1:n.3015-42_3015-41dup | |
| XM_005266105.5:c.3027-42_3027-41dup | XP_005266162.1:n.3027-42_3027-41dup | |
| XM_011519021.3:c.3045-42_3045-41dup | XP_011517323.1:n.3045-42_3045-41dup | |
| XM_011519022.3:c.3042-42_3042-41dup | XP_011517324.1:n.3042-42_3042-41dup | |
| XM_011519023.3:c.3024-42_3024-41dup | XP_011517325.1:n.3024-42_3024-41dup | |
| XM_011519029.3:c.1467-42_1467-41dup | XP_011517331.1:n.1467-42_1467-41dup | |
| XM_011519030.3:c.819-42_819-41dup | XP_011517332.1:n.819-42_819-41dup | |
| XM_017015134.1:c.3021-42_3021-41dup | XP_016870623.1:n.3021-42_3021-41dup | |
| XM_017015136.2:c.2937-42_2937-41dup | XP_016870625.1:n.2937-42_2937-41dup | |
| XM_017015137.1:c.2922-42_2922-41dup | XP_016870626.1:n.2922-42_2922-41dup | |
| XM_017015138.1:c.2922-42_2922-41dup | XP_016870627.1:n.2922-42_2922-41dup | |
| XM_024447674.1:c.2865-42_2865-41dup | XP_024303442.1:n.2865-42_2865-41dup | |
| XM_024447675.1:c.2799-42_2799-41dup | XP_024303443.1:n.2799-42_2799-41dup | |
| XM_024447676.1:c.2160-42_2160-41dup | XP_024303444.1:n.2160-42_2160-41dup | |
| XM_024447677.1:c.2160-42_2160-41dup | XP_024303445.1:n.2160-42_2160-41dup | |
| XM_024447680.1:c.2778-42_2778-41dup | XP_024303448.1:n.2778-42_2778-41dup | |
| NM_024757.5:c.3036-42_3036-41dup MANE Select | NP_079033.4:n.3036-42_3036-41dup | |
| NM_001354263.2:c.3015-42_3015-41dup | NP_001341192.1:n.3015-42_3015-41dup |