Linked Data
dbSNP Id:
rs1565692271
gnomAD v2:
11-118900125-CCACAGTTCCTGCTTGCCGCTCT-C
gnomAD v4:
11-119029415-CCACAGTTCCTGCTTGCCGCTCT-C
MyVariant Identifiers:
chr11:g.118900126_118900147del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119029425_119029446del , CM000673.2:g.119029425_119029446del | GRCh38 |
| NC_000011.9:g.118900135_118900156del , CM000673.1:g.118900135_118900156del | GRCh37 |
| NC_000011.8:g.118405345_118405366del | NCBI36 |
| NG_013331.1:g.6470_6491del , LRG_187:g.6470_6491del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529510.6:n.162_183del | ||
| ENST00000697846.1:n.162_183del | ||
| ENST00000697847.1:n.162_183del | ||
| ENST00000697848.1:n.162_183del | ||
| ENST00000697849.1:n.406_427del | ||
| ENST00000697850.1:n.162_183del | ||
| ENST00000697851.1:n.406_427del | ||
| ENST00000638186.1:n.236_257del | ||
| ENST00000638360.1:n.170_191del | ||
| ENST00000638925.1:n.169_190del | ||
| ENST00000650539.1:n.338_359del | ||
| ENST00000330775.9:c.-68_-47del | ENSP00000476242.2:n.-68_-47del | |
| ENST00000357590.9:c.-68_-47del | ENSP00000476176.2:n.-68_-47del | |
| ENST00000525039.5:n.356_377del | ||
| ENST00000525102.5:n.690_711del | ||
| ENST00000525787.1:n.228_249del | ||
| ENST00000526626.6:n.128_149del | ||
| ENST00000527992.5:n.160_181del | ||
| ENST00000530407.5:n.152_173del | ||
| ENST00000532085.1:n.1427_1448del | ||
| ENST00000532888.6:n.128_149del | ||
| ENST00000534384.1:n.153_174del | ||
| ENST00000538950.5:c.-217_-196del | ENSP00000475991.2:n.-217_-196del | |
| ENST00000545985.5:c.-68_-47del | ENSP00000475241.2:n.-68_-47del | |
| NM_001164277.1:c.-68_-47del , LRG_187t1:c.-68_-47del | NP_001157749.1:n.-68_-47del | |
| NM_001164278.1:c.-68_-47del | NP_001157750.1:n.-68_-47del | |
| NM_001164279.1:c.-217_-196del | NP_001157751.1:n.-217_-196del | |
| NM_001164280.1:c.-68_-47del | NP_001157752.1:n.-68_-47del | |
| NM_001467.5:c.-68_-47del | NP_001458.1:n.-68_-47del | |
| NM_001164278.2:c.-68_-47del | NP_001157750.1:n.-68_-47del | |
| NM_001164279.2:c.-217_-196del | NP_001157751.1:n.-217_-196del | |
| NM_001164280.2:c.-68_-47del | NP_001157752.1:n.-68_-47del | |
| NM_001467.6:c.-68_-47del | NP_001458.1:n.-68_-47del | |
| NM_001164277.2:c.-68_-47del MANE Select | NP_001157749.1:n.-68_-47del |