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:
rs1280846611
gnomAD v2:
7-21703921-T-TTTTTAAATG
gnomAD v3:
7-21664303-T-TTTTTAAATG
gnomAD v4:
7-21664303-T-TTTTTAAATG
MyVariant Identifiers:
chr7:g.21703921_21703922insTTTTAAATG (hg19)
chr7:g.21664303_21664304insTTTTAAATG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21664306_21664314dup , CM000669.2:g.21664306_21664314dup | GRCh38 |
| NC_000007.13:g.21703924_21703932dup , CM000669.1:g.21703924_21703932dup | GRCh37 |
| NC_000007.12:g.21670449_21670457dup | NCBI36 |
| NG_012886.2:g.126092_126100dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000409508.8:c.5328+5275_5328+5283dup MANE Select | ENSP00000475939.1:n.5328+5275_5328+5283du... | |
| ENST00000328843.10:c.5343+5275_5343+5283dup | ENSP00000330671.7:n.5343+5275_5343+5283du... | |
| ENST00000409508.7:c.5328+5275_5328+5283dup | ENSP00000475939.1:n.5328+5275_5328+5283du... | |
| ENST00000620169.4:c.5343+5275_5343+5283dup | ENSP00000481693.1:n.5343+5275_5343+5283du... | |
| NM_001277115.1:c.5328+5275_5328+5283dup | NP_001264044.1:n.5328+5275_5328+5283dup | |
| NM_001277115.2:c.5328+5275_5328+5283dup MANE Select | NP_001264044.1:n.5328+5275_5328+5283dup |