Linked Data
dbSNP Id:
rs1943420101
gnomAD v3:
10-98540340-T-TTGAGCAAGGTCA
gnomAD v4:
10-98540340-T-TTGAGCAAGGTCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.98540352_98540363dup , CM000672.2:g.98540352_98540363dup | GRCh38 |
| NC_000010.10:g.100300109_100300120dup , CM000672.1:g.100300109_100300120dup | GRCh37 |
| NC_000010.9:g.100290099_100290110dup | NCBI36 |
| NG_023416.1:g.700524_700535dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370552.8:c.1321-50156_1321-50145dup MANE Select | ENSP00000359583.3:n.1321-50156_1321-50145... | |
| ENST00000370546.5:c.1321-50156_1321-50145dup | ENSP00000359577.1:n.1321-50156_1321-50145... | |
| ENST00000370549.5:c.1147-50156_1147-50145dup | ENSP00000359580.1:n.1147-50156_1147-50145... | |
| ENST00000370552.7:c.1321-50156_1321-50145dup | ENSP00000359583.3:n.1321-50156_1321-50145... | |
| ENST00000404542.5:c.712-50156_712-50145dup | ENSP00000384384.2:n.712-50156_712-50145du... | |
| ENST00000628193.2:c.985-50156_985-50145dup | ENSP00000485916.1:n.985-50156_985-50145du... | |
| NM_001166244.1:c.1147-50156_1147-50145dup | NP_001159716.1:n.1147-50156_1147-50145dup... | |
| NM_001166245.1:c.985-50156_985-50145dup | NP_001159717.1:n.985-50156_985-50145dup | |
| NM_001166246.1:c.1321-50156_1321-50145dup | NP_001159718.1:n.1321-50156_1321-50145dup... | |
| NM_021828.4:c.1321-50156_1321-50145dup | NP_068600.4:n.1321-50156_1321-50145dup | |
| XM_006717937.2:c.805-50156_805-50145dup | XP_006718000.1:n.805-50156_805-50145dup | |
| XM_011540029.1:c.1321-50156_1321-50145dup | XP_011538331.1:n.1321-50156_1321-50145dup... | |
| XM_011540030.1:c.1159-50156_1159-50145dup | XP_011538332.1:n.1159-50156_1159-50145dup... | |
| XM_011540031.1:c.805-50156_805-50145dup | XP_011538333.1:n.805-50156_805-50145dup | |
| XM_011540033.1:c.517-50156_517-50145dup | XP_011538335.1:n.517-50156_517-50145dup | |
| XR_945794.1:n.1394-50156_1394-50145dup | ||
| XM_011540031.2:c.805-50156_805-50145dup | XP_011538333.1:n.805-50156_805-50145dup | |
| XM_017016495.1:c.1321-50156_1321-50145dup | XP_016871984.1:n.1321-50156_1321-50145dup... | |
| XM_017016497.1:c.805-50156_805-50145dup | XP_016871986.1:n.805-50156_805-50145dup | |
| XM_017016498.1:c.517-50156_517-50145dup | XP_016871987.1:n.517-50156_517-50145dup | |
| XM_024448119.1:c.805-50156_805-50145dup | XP_024303887.1:n.805-50156_805-50145dup | |
| XM_024448120.1:c.517-50156_517-50145dup | XP_024303888.1:n.517-50156_517-50145dup | |
| XR_001747170.1:n.1398-50156_1398-50145dup | ||
| NM_021828.5:c.1321-50156_1321-50145dup MANE Select | NP_068600.4:n.1321-50156_1321-50145dup |