Linked Data
dbSNP Id:
rs780191177
ExAC:
4:100047828 TTTCTTA / T
gnomAD v2:
4-100047828-TTTCTTA-T
gnomAD v4:
4-99126677-TTTCTTA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99126685_99126690del , CM000666.2:g.99126685_99126690del | GRCh38 |
| NC_000004.11:g.100047836_100047841del , CM000666.1:g.100047836_100047841del | GRCh37 |
| NC_000004.10:g.100266859_100266864del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265512.12:c.1029_1034del MANE Select | ENSP00000265512.7:p.Asn343_Lys344del | |
| ENST00000265512.11:c.1029_1034del | ENSP00000265512.7:p.Asn343_Lys344del | |
| ENST00000505590.5:c.1086_1091del | ENSP00000425416.1:p.Asn362_Lys363del | |
| ENST00000506705.5:c.*1003_*1008del | ENSP00000426667.1:n.*1003_*1008del | |
| ENST00000508393.5:c.1086_1091del | ENSP00000424630.1:p.Asn362_Lys363del | |
| ENST00000509471.5:c.383_388del | ENSP00000424583.1:n.383_388del | |
| ENST00000629236.2:c.1029_1034del | ENSP00000486450.1:p.Asn343_Lys344del | |
| NM_000670.3:c.1029_1034del | NP_000661.2:p.Asn343_Lys344del | |
| NM_000670.4:c.1029_1034del | NP_000661.2:p.Asn343_Lys344del | |
| NM_001306171.1:c.1086_1091del | NP_001293100.1:p.Asn362_Lys363del | |
| NM_001306172.1:c.1086_1091del | NP_001293101.1:p.Asn362_Lys363del | |
| NR_037884.1:n.429-6870_429-6865del | ||
| XR_938685.1:n.1257_1262del | ||
| XR_938686.1:n.1248_1253del | ||
| XR_938687.1:n.1121_1126del | ||
| NM_000670.5:c.1029_1034del MANE Select | NP_000661.2:p.Asn343_Lys344del | |
| NM_001306171.2:c.1086_1091del | NP_001293100.1:p.Asn362_Lys363del | |
| NM_001306172.2:c.1086_1091del | NP_001293101.1:p.Asn362_Lys363del |