Linked Data
gnomAD v4:
17-39666057-C-CCCTTCGTCGCTCCCTGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39666057_39666058insCCTTCGTCGCTCCCTGT , CM000679.2:g.39666057_39666058insCCTTCGTCGCTCCCTGT | GRCh38 |
| NC_000017.10:g.37822310_37822311insCCTTCGTCGCTCCCTGT , CM000679.1:g.37822310_37822311insCCTTCGTCGCTCCCTGT | GRCh37 |
| NC_000017.9:g.35075836_35075837insCCTTCGTCGCTCCCTGT | NCBI36 |
| NG_008892.1:g.5712_5713insCCTTCGTCGCTCCCTGT , LRG_210:g.5712_5713insCCTTCGTCGCTCCCTGT | |
| NG_042278.1:g.3077_3078insCCTTCGTCGCTCCCTGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309889.3:c.452_453insCCTTCGTCGCTCCCTGT MANE Select | ENSP00000312624.2:p.Ser157TyrfsTer? | |
| ENST00000309889.2:c.452_453insCCTTCGTCGCTCCCTGT | ENSP00000312624.2:p.Ser157TyrfsTer? | |
| ENST00000578283.1:c.380_381insCCTTCGTCGCTCCCTGT | ENSP00000462787.1:p.Ser133TyrfsTer? | |
| NM_003673.3:c.452_453insCCTTCGTCGCTCCCTGT , LRG_210t1:c.452_453insCCTTCGTCGCTCCCTGT | NP_003664.1:p.Ser157TyrfsTer? | |
| NM_003673.4:c.452_453insCCTTCGTCGCTCCCTGT MANE Select | NP_003664.1:p.Ser157TyrfsTer? |