Linked Data
dbSNP Id:
rs1021205438
gnomAD v2:
15-50611089-CAG-C
gnomAD v3:
15-50318892-CAG-C
gnomAD v4:
15-50318892-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.50318896_50318897del , CM000677.2:g.50318896_50318897del | GRCh38 |
| NC_000015.9:g.50611093_50611094del , CM000677.1:g.50611093_50611094del | GRCh37 |
| NC_000015.8:g.48398385_48398386del | NCBI36 |
| NG_029475.1:g.41515_41516del | |
| NG_029475.2:g.41515_41516del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380877.8:c.1-9096_1-9095del MANE Select | ENSP00000370259.3:n.1-9096_1-9095del | |
| ENST00000220429.12:c.1-9096_1-9095del | ENSP00000220429.8:n.1-9096_1-9095del | |
| ENST00000359031.8:c.1-9096_1-9095del | ENSP00000351923.4:n.1-9096_1-9095del | |
| ENST00000380877.7:c.1-9096_1-9095del | ENSP00000370259.3:n.1-9096_1-9095del | |
| ENST00000396464.7:c.1-9096_1-9095del | ENSP00000379728.3:n.1-9096_1-9095del | |
| ENST00000429662.6:c.1-9096_1-9095del | ENSP00000395771.2:n.1-9096_1-9095del | |
| ENST00000543881.5:c.-120-14761_-120-14760del | ENSP00000442500.1:n.-120-14761_-120-14760del | |
| ENST00000558335.5:c.-1+8299_-1+8300del | ENSP00000453578.1:n.-1+8299_-1+8300del | |
| ENST00000558970.2:c.-255-4224_-255-4223del | ENSP00000454211.1:n.-255-4224_-255-4223del | |
| ENST00000560825.5:c.1-9096_1-9095del | ENSP00000453463.1:n.1-9096_1-9095del | |
| NM_002041.4:c.1-9096_1-9095del | NP_002032.2:n.1-9096_1-9095del | |
| NM_005254.5:c.1-9096_1-9095del | NP_005245.2:n.1-9096_1-9095del | |
| NM_016654.4:c.1-9096_1-9095del | NP_057738.1:n.1-9096_1-9095del | |
| NM_016655.4:c.1-9096_1-9095del | NP_057739.1:n.1-9096_1-9095del | |
| NM_181427.3:c.1-9096_1-9095del | NP_852092.1:n.1-9096_1-9095del | |
| XM_005254273.3:c.1-9096_1-9095del | XP_005254330.1:n.1-9096_1-9095del | |
| XM_005254274.3:c.-1+8299_-1+8300del | XP_005254331.1:n.-1+8299_-1+8300del | |
| XM_011521427.1:c.-1+2508_-1+2509del | XP_011519729.1:n.-1+2508_-1+2509del | |
| NM_001320910.1:c.1-9096_1-9095del | NP_001307839.1:n.1-9096_1-9095del | |
| NM_001320915.1:c.1-9096_1-9095del | NP_001307844.1:n.1-9096_1-9095del | |
| XM_005254274.4:c.-1+8299_-1+8300del | XP_005254331.1:n.-1+8299_-1+8300del | |
| XM_011521426.3:c.1-9096_1-9095del | XP_011519728.1:n.1-9096_1-9095del | |
| XM_017022053.2:c.1-9096_1-9095del | XP_016877542.1:n.1-9096_1-9095del | |
| XM_017022054.2:c.1-9096_1-9095del | XP_016877543.1:n.1-9096_1-9095del | |
| XM_024449883.1:c.16-9096_16-9095del | XP_024305651.1:n.16-9096_16-9095del | |
| XM_024449884.1:c.16-9096_16-9095del | XP_024305652.1:n.16-9096_16-9095del | |
| XM_024449885.1:c.9+8475_9+8476del | XP_024305653.1:n.9+8475_9+8476del | |
| XM_024449886.1:c.1-9096_1-9095del | XP_024305654.1:n.1-9096_1-9095del | |
| XM_024449887.1:c.16-9096_16-9095del | XP_024305655.1:n.16-9096_16-9095del | |
| XM_024449888.1:c.16-9096_16-9095del | XP_024305656.1:n.16-9096_16-9095del | |
| NM_001320910.2:c.1-9096_1-9095del | NP_001307839.1:n.1-9096_1-9095del | |
| NM_001320915.2:c.1-9096_1-9095del | NP_001307844.1:n.1-9096_1-9095del | |
| NM_005254.6:c.1-9096_1-9095del | NP_005245.2:n.1-9096_1-9095del | |
| NM_016654.5:c.1-9096_1-9095del MANE Select | NP_057738.1:n.1-9096_1-9095del | |
| NM_002041.5:c.1-9096_1-9095del | NP_002032.2:n.1-9096_1-9095del | |
| NM_016655.5:c.1-9096_1-9095del | NP_057739.1:n.1-9096_1-9095del | |
| NM_181427.4:c.1-9096_1-9095del | NP_852092.1:n.1-9096_1-9095del |