Linked Data
dbSNP Id:
rs1434043785
gnomAD v2:
19-39735102-G-GTCCTTCAGCAGTCCTT
gnomAD v4:
19-39244462-G-GTCCTTCAGCAGTCCTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39244462_39244463insTCCTTCAGCAGTCCTT , CM000681.2:g.39244462_39244463insTCCTTCAGCAGTCCTT | GRCh38 |
| NC_000019.9:g.39735102_39735103insTCCTTCAGCAGTCCTT , CM000681.1:g.39735102_39735103insTCCTTCAGCAGTCCTT | GRCh37 |
| NC_000019.8:g.44426942_44426943insTCCTTCAGCAGTCCTT | NCBI36 |
| NG_042193.1:g.5509_5510insAAGGACTGCTGAAGGA | |
| NG_055295.1:g.9394_9395insAAGGACTGCTGAAGGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613087.5:c.224_225insAAGGACTGCTGAAGGA | ENSP00000481633.1:p.Cys75Ter | |
| ENST00000413851.3:c.212_213insAAGGACTGCTGAAGGA MANE Select | ENSP00000409000.2:p.Cys71Ter | |
| ENST00000413851.2:c.212_213insAAGGACTGCTGAAGGA | ENSP00000409000.2:p.Cys71Ter | |
| ENST00000613087.4:c.224_225insAAGGACTGCTGAAGGA | ENSP00000481633.1:p.Cys75Ter | |
| NM_172139.2:c.212_213insAAGGACTGCTGAAGGA | NP_742151.2:p.Cys71Ter | |
| XM_005258765.3:c.224_225insAAGGACTGCTGAAGGA | XP_005258822.1:p.Cys75Ter | |
| XM_011526757.1:c.224_225insAAGGACTGCTGAAGGA | XP_011525059.1:p.Cys75Ter | |
| NM_001346937.1:c.224_225insAAGGACTGCTGAAGGA | NP_001333866.1:p.Cys75Ter | |
| NM_172139.3:c.212_213insAAGGACTGCTGAAGGA | NP_742151.2:p.Cys71Ter | |
| NM_172139.4:c.212_213insAAGGACTGCTGAAGGA MANE Select | NP_742151.2:p.Cys71Ter | |
| NM_001346937.2:c.224_225insAAGGACTGCTGAAGGA | NP_001333866.1:p.Cys75Ter |