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:
rs1567783737
gnomAD v2:
17-41234640-C-CTTTCCATTAAATGAAAATTAAATGAAA
gnomAD v4:
17-43082623-C-CTTTCCATTAAATGAAAATTAAATGAAA
MyVariant Identifiers:
chr17:g.41234640_41234641insTTTCCATTAAATGAAAATTAAATGAAA (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43082641_43082642insTAAATGAAATTTCCATTAAATGAAAAT , CM000679.2:g.43082641_43082642insTAAATGAAATTTCCATTAAATGAAAAT | GRCh38 |
| NC_000017.10:g.41234658_41234659insTAAATGAAATTTCCATTAAATGAAAAT , CM000679.1:g.41234658_41234659insTAAATGAAATTTCCATTAAATGAAAAT | GRCh37 |
| NC_000017.9:g.38488184_38488185insTAAATGAAATTTCCATTAAATGAAAAT | NCBI36 |
| NG_005905.2:g.135360_135361insTTTCATTTAATTTTCATTTAATGGAAA , LRG_292:g.135360_135361insTTTCATTTAATTTTCATTTAATGGAAA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000461574.2:c.4186-49_4186-48insTTTCATTTAATTTTCATTTAATGGAAA | ENSP00000417241.2:n.4186-49_4186-48insTTTCATTTAATTTTCATTTAATG... | |
| ENST00000470026.6:c.4186-49_4186-48insTTTCATTTAATTTTCATTTAATGGAAA | ENSP00000419274.2:n.4186-49_4186-48insTTTCATTTAATTTTCATTTAATG... | |
| ENST00000473961.6:c.4060-49_4060-48insTTTCATTTAATTTTCATTTAATGGAAA | ENSP00000420201.2:n.4060-49_4060-48insTTTCATTTAATTTTCATTTAATG... | |
| ENST00000476777.6:c.4183-52_4183-51insTTTCATTTAATTTTCATTTAATGGAAA | ENSP00000417554.2:n.4183-52_4183-51insTTTCATTTAATTTTCATTTAATG... | |
| ENST00000477152.6:c.4108-49_4108-48insTTTCATTTAATTTTCATTTAATGGAAA | ENSP00000419988.2:n.4108-49_4108-48insTTTCATTTAATTTTCATTTAATG... | |
| ENST00000478531.6:c.874-49_874-48insTTTCATTTAATTTTCATTTAATGGAAA | ENSP00000420412.2:n.874-49_874-48insTTTCATTTAATTTTCATTTAATGGA... | |
| ENST00000489037.2:c.4108-49_4108-48insTTTCATTTAATTTTCATTTAATGGAAA | ENSP00000420781.2:n.4108-49_4108-48insTTTCATTTAATTTTCATTTAATG... | |
| ENST00000493919.6:c.736-49_736-48insTTTCATTTAATTTTCATTTAATGGAAA | ENSP00000418819.2:n.736-49_736-48insTTTCATTTAATTTTCATTTAATGGA... | |
| ENST00000494123.6:c.4186-49_4186-48insTTTCATTTAATTTTCATTTAATGGAAA | ENSP00000419103.2:n.4186-49_4186-48insTTTCATTTAATTTTCATTTAATG... | |
| ENST00000497488.2:c.3298-49_3298-48insTTTCATTTAATTTTCATTTAATGGAAA | ENSP00000418986.2:n.3298-49_3298-48insTTTCATTTAATTTTCATTTAATG... | |
| ENST00000618469.2:c.4186-49_4186-48insTTTCATTTAATTTTCATTTAATGGAAA | ENSP00000478114.2:n.4186-49_4186-48insTTTCATTTAATTTTCATTTAATG... | |
| ENST00000634433.2:c.4063-49_4063-48insTTTCATTTAATTTTCATTTAATGGAAA | ENSP00000489431.2:n.4063-49_4063-48insTTTCATTTAATTTTCATTTAATG... | |
| ENST00000644379.2:c.4186-49_4186-48insTTTCATTTAATTTTCATTTAATGGAAA | ENSP00000496570.2:n.4186-49_4186-48insTTTCATTTAATTTTCATTTAATG... | |
| ENST00000644555.2:c.736-49_736-48insTTTCATTTAATTTTCATTTAATGGAAA | ENSP00000494614.2:n.736-49_736-48insTTTCATTTAATTTTCATTTAATGGA... | |
| ENST00000652672.2:c.4045-49_4045-48insTTTCATTTAATTTTCATTTAATGGAAA | ENSP00000498906.2:n.4045-49_4045-48insTTTCATTTAATTTTCATTTAATG... | |
| ENST00000484087.6:c.754-52_754-51insTTTCATTTAATTTTCATTTAATGGAAA | ENSP00000419481.2:n.754-52_754-51insTTTCATTTAATTTTCATTTAATGGA... | |
| ENST00000700182.1:c.796-49_796-48insTTTCATTTAATTTTCATTTAATGGAAA | ENSP00000514849.1:n.796-49_796-48insTTTCATTTAATTTTCATTTAATGGA... | |
| ENST00000357654.9:c.4186-49_4186-48insTTTCATTTAATTTTCATTTAATGGAAA MANE Select | ENSP00000350283.3:n.4186-49_4186-48insTTTCATTTAATTTTCATTTAATG... | |
| ENST00000471181.7:c.4186-49_4186-48insTTTCATTTAATTTTCATTTAATGGAAA | ENSP00000418960.2:n.4186-49_4186-48insTTTCATTTAATTTTCATTTAATG... | |
| ENST00000644379.1:c.507-49_507-48insTTTCATTTAATTTTCATTTAATGGAAA | ||
| ENST00000352993.7:c.760-49_760-48insTTTCATTTAATTTTCATTTAATGGAAA | ENSP00000312236.5:n.760-49_760-48insTTTCATTTAATTTTCATTTAATGGA... | |
| ENST00000357654.7:c.4186-49_4186-48insTTTCATTTAATTTTCATTTAATGGAAA | ENSP00000350283.3:n.4186-49_4186-48insTTTCATTTAATTTTCATTTAATG... | |
| ENST00000461221.5:c.*3969-49_*3969-48insTTTCATTTAATTTTCATTTAATGGAAA | ENSP00000418548.1:n.*3969-49_*3969-48insTTTCATTTAATTTTCATTTAA... | |
| ENST00000461574.1:c.480-49_480-48insTTTCATTTAATTTTCATTTAATGGAAA | ||
| ENST00000468300.5:c.877-49_877-48insTTTCATTTAATTTTCATTTAATGGAAA | ENSP00000417148.1:n.877-49_877-48insTTTCATTTAATTTTCATTTAATGGA... | |
| ENST00000471181.6:c.4186-49_4186-48insTTTCATTTAATTTTCATTTAATGGAAA | ENSP00000418960.2:n.4186-49_4186-48insTTTCATTTAATTTTCATTTAATG... | |
| ENST00000478531.5:c.874-49_874-48insTTTCATTTAATTTTCATTTAATGGAAA | ENSP00000420412.1:n.874-49_874-48insTTTCATTTAATTTTCATTTAATGGA... | |
| ENST00000484087.5:c.499-49_499-48insTTTCATTTAATTTTCATTTAATGGAAA | ENSP00000419481.1:n.499-49_499-48insTTTCATTTAATTTTCATTTAATGGA... | |
| ENST00000487825.5:c.502-49_502-48insTTTCATTTAATTTTCATTTAATGGAAA | ENSP00000418212.1:n.502-49_502-48insTTTCATTTAATTTTCATTTAATGGA... | |
| ENST00000491747.6:c.877-49_877-48insTTTCATTTAATTTTCATTTAATGGAAA | ENSP00000420705.2:n.877-49_877-48insTTTCATTTAATTTTCATTTAATGGA... | |
| ENST00000493795.5:c.4045-49_4045-48insTTTCATTTAATTTTCATTTAATGGAAA | ENSP00000418775.1:n.4045-49_4045-48insTTTCATTTAATTTTCATTTAATG... | |
| ENST00000493919.5:c.736-49_736-48insTTTCATTTAATTTTCATTTAATGGAAA | ENSP00000418819.1:n.736-49_736-48insTTTCATTTAATTTTCATTTAATGGA... | |
| ENST00000586385.5:c.5-18673_5-18672insTTTCATTTAATTTTCATTTAATGGAAA | ENSP00000465818.1:n.5-18673_5-18672insTTTCATTTAATTTTCATTTAATG... | |
| ENST00000591534.5:c.-43-8103_-43-8102insTTTCATTTAATTTTCATTTAATGGAAA | ENSP00000467329.1:n.-43-8103_-43-8102insTTTCATTTAATTTTCATTTAA... | |
| ENST00000591849.5:c.-98-32434_-98-32433insTTTCATTTAATTTTCATTTAATGGAAA | ENSP00000465347.1:n.-98-32434_-98-32433insTTTCATTTAATTTTCATTT... | |
| ENST00000621897.1:n.80-49_80-48insTTTCATTTAATTTTCATTTAATGGAAA | ||
| NM_007294.3:c.4186-49_4186-48insTTTCATTTAATTTTCATTTAATGGAAA , LRG_292t1:c.4186-49_4186-48insTTTCATTTAATTTTCATTTAATGGAAA | NP_009225.1:n.4186-49_4186-48insTTTCATTTAATTTTCATTTAATGGAAA | |
| NM_007297.3:c.4045-49_4045-48insTTTCATTTAATTTTCATTTAATGGAAA | NP_009228.2:n.4045-49_4045-48insTTTCATTTAATTTTCATTTAATGGAAA | |
| NM_007298.3:c.877-49_877-48insTTTCATTTAATTTTCATTTAATGGAAA | NP_009229.2:n.877-49_877-48insTTTCATTTAATTTTCATTTAATGGAAA | |
| NM_007299.3:c.877-49_877-48insTTTCATTTAATTTTCATTTAATGGAAA | NP_009230.2:n.877-49_877-48insTTTCATTTAATTTTCATTTAATGGAAA | |
| NM_007300.3:c.4186-49_4186-48insTTTCATTTAATTTTCATTTAATGGAAA | NP_009231.2:n.4186-49_4186-48insTTTCATTTAATTTTCATTTAATGGAAA | |
| NR_027676.1:n.4322-49_4322-48insTTTCATTTAATTTTCATTTAATGGAAA | ||
| NM_007294.4:c.4186-49_4186-48insTTTCATTTAATTTTCATTTAATGGAAA MANE Select | NP_009225.1:n.4186-49_4186-48insTTTCATTTAATTTTCATTTAATGGAAA | |
| NM_007297.4:c.4045-49_4045-48insTTTCATTTAATTTTCATTTAATGGAAA | NP_009228.2:n.4045-49_4045-48insTTTCATTTAATTTTCATTTAATGGAAA | |
| NM_007299.4:c.877-49_877-48insTTTCATTTAATTTTCATTTAATGGAAA | NP_009230.2:n.877-49_877-48insTTTCATTTAATTTTCATTTAATGGAAA | |
| NM_007300.4:c.4186-49_4186-48insTTTCATTTAATTTTCATTTAATGGAAA | NP_009231.2:n.4186-49_4186-48insTTTCATTTAATTTTCATTTAATGGAAA | |
| NR_027676.2:n.4363-49_4363-48insTTTCATTTAATTTTCATTTAATGGAAA |