UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
dbSNP Id:
rs1564880110
gnomAD v2:
10-128267643-A-ATTTT
gnomAD v3:
10-126579074-A-ATTTT
gnomAD v4:
10-126579074-A-ATTTT
MyVariant Identifiers:
chr10:g.128267643_128267644insTTTT (hg19)
chr10:g.126579074_126579075insTTTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.126579074_126579075insTTTT , CM000672.2:g.126579074_126579075insTTTT | GRCh38 |
| NC_000010.10:g.128267643_128267644insTTTT , CM000672.1:g.128267643_128267644insTTTT | GRCh37 |
| NC_000010.9:g.128257633_128257634insTTTT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000488181.3:c.314-65136_314-65135insAAAA MANE Select | ENSP00000474558.3:n.314-65136_314-65135in... | |
| ENST00000488181.2:c.191-65136_191-65135insAAAA | ENSP00000474558.2:n.191-65136_191-65135in... | |
| ENST00000657225.1:n.231-65136_231-65135insAAAA | ||
| ENST00000488181.1:c.-119-65136_-119-65135insAAAA | ENSP00000474558.1:n.-119-65136_-119-65135... | |
| XM_011539216.1:c.314-65136_314-65135insAAAA | XP_011537518.1:n.314-65136_314-65135insAA... | |
| XM_011539219.1:c.-119-65136_-119-65135insAAAA | XP_011537521.1:n.-119-65136_-119-65135ins... | |
| XM_011539221.1:c.-119-65136_-119-65135insAAAA | XP_011537523.1:n.-119-65136_-119-65135ins... | |
| XM_011539228.1:c.-119-65136_-119-65135insAAAA | XP_011537530.1:n.-119-65136_-119-65135ins... | |
| XR_945591.1:n.872-65136_872-65135insAAAA | ||
| NM_001350921.1:c.314-65136_314-65135insAAAA | NP_001337850.1:n.314-65136_314-65135insAA... | |
| NM_001350922.1:c.314-65136_314-65135insAAAA | NP_001337851.1:n.314-65136_314-65135insAA... | |
| NM_001350923.1:c.314-65136_314-65135insAAAA | NP_001337852.1:n.314-65136_314-65135insAA... | |
| NR_146939.1:n.344-65136_344-65135insAAAA | ||
| XR_002956946.1:n.344-65136_344-65135insAAAA | ||
| XR_002956950.1:n.344-65136_344-65135insAAAA | ||
| NM_001350921.2:c.314-65136_314-65135insAAAA MANE Select | NP_001337850.1:n.314-65136_314-65135insAA... | |
| NM_001350922.2:c.314-65136_314-65135insAAAA | NP_001337851.1:n.314-65136_314-65135insAA... | |
| NM_001350923.2:c.314-65136_314-65135insAAAA | NP_001337852.1:n.314-65136_314-65135insAA... | |
| NR_146939.2:n.527-65136_527-65135insAAAA |