Linked Data
dbSNP Id:
rs747543156
ExAC:
6:131904683 A / ATAT
gnomAD v2:
6-131904683-A-ATAT
gnomAD v3:
6-131583543-A-ATAT
gnomAD v4:
6-131583543-A-ATAT
MyVariant Identifiers:
chr6:g.131904683_131904684insTAT (hg19)
chr6:g.131583543_131583544insTAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131583545_131583547dup , CM000668.2:g.131583545_131583547dup | GRCh38 |
| NC_000006.11:g.131904685_131904687dup , CM000668.1:g.131904685_131904687dup | GRCh37 |
| NC_000006.10:g.131946378_131946380dup | NCBI36 |
| NG_007086.2:g.15321_15323dup | |
| NG_031860.1:g.49678_49680dup | |
| NG_031860.2:g.49678_49680dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368087.8:c.802+54_802+56dup (ARG1) MANE Select | ENSP00000357066.3:n.802+54_802+56dup | |
| ENST00000640973.1:c.605-257_605-255dup (ARG1) | ENSP00000492623.1:n.605-257_605-255dup | |
| ENST00000672233.1:c.748+54_748+56dup (ARG1) | ENSP00000499826.1:n.748+54_748+56dup | |
| ENST00000673234.1:c.*689+54_*689+56dup (ARG1) | ENSP00000499885.1:n.*689+54_*689+56dup | |
| ENST00000673427.1:c.547+54_547+56dup (ARG1) | ENSP00000500160.1:n.547+54_547+56dup | |
| ENST00000354577.8:c.4095+4163_4095+4165dup (MED23) | ENSP00000346588.4:n.4095+4163_4095+4165dup | |
| ENST00000356962.2:c.826+54_826+56dup (ARG1) | ENSP00000349446.2:n.826+54_826+56dup | |
| ENST00000368087.7:c.802+54_802+56dup (ARG1) | ENSP00000357066.3:n.802+54_802+56dup | |
| NM_000045.3:c.802+54_802+56dup (ARG1) | NP_000036.2:n.802+54_802+56dup | |
| NM_001244438.1:c.826+54_826+56dup (ARG1) | NP_001231367.1:n.826+54_826+56dup | |
| NM_001270521.1:c.4077+4163_4077+4165dup (MED23) | NP_001257450.1:n.4077+4163_4077+4165dup | |
| NM_015979.3:c.4095+4163_4095+4165dup (MED23) | NP_057063.2:n.4095+4163_4095+4165dup | |
| XM_011535801.1:c.547+54_547+56dup (ARG1) | XP_011534103.1:n.547+54_547+56dup | |
| XM_011535801.2:c.547+54_547+56dup (ARG1) | XP_011534103.1:n.547+54_547+56dup | |
| NM_000045.4:c.802+54_802+56dup (ARG1) MANE Select | NP_000036.2:n.802+54_802+56dup | |
| NM_001244438.2:c.826+54_826+56dup (ARG1) | NP_001231367.1:n.826+54_826+56dup | |
| NM_001270521.2:c.4077+4163_4077+4165dup (MED23) | NP_001257450.1:n.4077+4163_4077+4165dup | |
| NM_001369020.1:c.547+54_547+56dup (ARG1) | NP_001355949.1:n.547+54_547+56dup | |
| NM_015979.4:c.4095+4163_4095+4165dup (MED23) | NP_057063.2:n.4095+4163_4095+4165dup | |
| NR_160934.1:n.786+54_786+56dup (ARG1) |