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
gnomAD v4:
X-154419866-C-CGCTA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154419866_154419867insGCTA , CM000685.2:g.154419866_154419867insGCTA | GRCh38 |
| NC_000023.10:g.153648205_153648206insGCTA , CM000685.1:g.153648205_153648206insGCTA | GRCh37 |
| NC_000023.9:g.153301399_153301400insGCTA | NCBI36 |
| NG_009634.1:g.13329_13330insGCTA | |
| NG_009634.2:g.13332_13333insGCTA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698234.1:n.1228_1229insGCTA | ||
| ENST00000698317.1:n.1844_1845insGCTA | ||
| ENST00000698318.1:n.1627_1628insGCTA | ||
| ENST00000698319.1:n.990_991insGCTA | ||
| ENST00000698320.1:n.878_879insGCTA | ||
| ENST00000470127.2:n.891_892insGCTA | ||
| ENST00000475699.6:c.547+120_547+121insGCTA | ENSP00000419854.3:n.547+120_547+121insGCTA | |
| ENST00000483674.3:n.465+120_465+121insGCTA | ||
| ENST00000601016.6:c.583+120_583+121insGCTA MANE Select | ENSP00000469981.1:n.583+120_583+121insGCTA | |
| ENST00000612012.5:c.542-166_542-165insGCTA | ENSP00000482070.2:n.542-166_542-165insGCTA | |
| ENST00000612460.5:c.493+120_493+121insGCTA | ENSP00000481037.1:n.493+120_493+121insGCTA | |
| ENST00000614595.2:n.1930+120_1930+121insGCTA | ||
| ENST00000615658.5:n.1007_1008insGCTA | ||
| ENST00000616020.5:c.596-166_596-165insGCTA | ENSP00000483636.2:n.596-166_596-165insGCTA | |
| ENST00000617701.5:c.*431_*432insGCTA | ENSP00000481645.1:n.*431_*432insGCTA | |
| ENST00000652354.1:c.266-166_266-165insGCTA | ENSP00000498734.1:n.266-166_266-165insGCTA | |
| ENST00000652358.1:c.376+120_376+121insGCTA | ENSP00000498464.1:n.376+120_376+121insGCTA | |
| ENST00000652390.1:c.502+120_502+121insGCTA | ENSP00000498858.1:n.502+120_502+121insGCTA | |
| ENST00000652476.1:n.1084_1085insGCTA | ||
| ENST00000652644.1:c.196+120_196+121insGCTA | ENSP00000498496.1:n.196+120_196+121insGCTA | |
| ENST00000652682.1:c.640+120_640+121insGCTA | ENSP00000498288.1:n.640+120_640+121insGCTA | |
| ENST00000652685.1:n.771_772insGCTA | ||
| ENST00000369776.8:c.377-166_377-165insGCTA | ENSP00000358791.4:n.377-166_377-165insGCTA | |
| ENST00000426231.5:c.580+120_580+121insGCTA | ||
| ENST00000439735.2:c.490+120_490+121insGCTA | ENSP00000398193.1:n.490+120_490+121insGCTA | |
| ENST00000470127.1:n.162+120_162+121insGCTA | ||
| ENST00000475699.5:c.542-166_542-165insGCTA | ENSP00000419854.2:n.542-166_542-165insGCTA | |
| ENST00000476679.5:n.697_698insGCTA | ||
| ENST00000494912.5:n.1272+120_1272+121insGCTA | ||
| ENST00000601016.5:c.583+120_583+121insGCTA | ENSP00000469981.1:n.583+120_583+121insGCTA | |
| ENST00000612012.4:c.547+120_547+121insGCTA | ENSP00000482070.1:n.547+120_547+121insGCTA | |
| ENST00000612460.4:c.493+120_493+121insGCTA | ENSP00000481037.1:n.493+120_493+121insGCTA | |
| ENST00000613002.4:c.452-166_452-165insGCTA | ENSP00000478154.1:n.452-166_452-165insGCTA | |
| ENST00000613634.4:n.933_934insGCTA | ||
| ENST00000615658.4:n.1107_1108insGCTA | ||
| ENST00000615986.4:c.*311+120_*311+121insGCTA | ENSP00000480133.1:n.*311+120_*311+121insGCTA | |
| ENST00000620808.4:c.*170-166_*170-165insGCTA | ENSP00000479311.1:n.*170-166_*170-165insGCTA | |
| NM_000116.4:c.583+120_583+121insGCTA | NP_000107.1:n.583+120_583+121insGCTA | |
| NM_001303465.1:c.596-166_596-165insGCTA | NP_001290394.1:n.596-166_596-165insGCTA | |
| NM_181311.3:c.493+120_493+121insGCTA | NP_851828.1:n.493+120_493+121insGCTA | |
| NM_181312.3:c.542-166_542-165insGCTA | NP_851829.1:n.542-166_542-165insGCTA | |
| NM_181313.3:c.452-166_452-165insGCTA | NP_851830.1:n.452-166_452-165insGCTA | |
| NR_024048.2:n.925+120_925+121insGCTA | ||
| XM_006724836.1:c.637+120_637+121insGCTA | XP_006724899.1:n.637+120_637+121insGCTA | |
| XM_006724837.1:c.506-166_506-165insGCTA | XP_006724900.1:n.506-166_506-165insGCTA | |
| XM_006724839.1:c.506-166_506-165insGCTA | XP_006724902.1:n.506-166_506-165insGCTA | |
| XM_006724841.2:c.376+120_376+121insGCTA | XP_006724904.1:n.376+120_376+121insGCTA | |
| XM_006724842.2:c.286+120_286+121insGCTA | XP_006724905.1:n.286+120_286+121insGCTA | |
| XM_011531189.1:c.425-166_425-165insGCTA | XP_011529491.1:n.425-166_425-165insGCTA | |
| XM_011531190.1:c.376+120_376+121insGCTA | XP_011529492.1:n.376+120_376+121insGCTA | |
| XM_011531191.1:c.307+120_307+121insGCTA | XP_011529493.1:n.307+120_307+121insGCTA | |
| XM_011531192.1:c.304+120_304+121insGCTA | XP_011529494.1:n.304+120_304+121insGCTA | |
| XR_938511.1:n.931+120_931+121insGCTA | ||
| XM_006724841.4:c.376+120_376+121insGCTA | XP_006724904.1:n.376+120_376+121insGCTA | |
| XM_006724842.4:c.286+120_286+121insGCTA | XP_006724905.1:n.286+120_286+121insGCTA | |
| XM_011531191.2:c.307+120_307+121insGCTA | XP_011529493.1:n.307+120_307+121insGCTA | |
| XM_017029761.1:c.452-166_452-165insGCTA | XP_016885250.1:n.452-166_452-165insGCTA | |
| XM_017029762.1:c.547+120_547+121insGCTA | XP_016885251.1:n.547+120_547+121insGCTA | |
| XM_017029763.1:c.371-166_371-165insGCTA | XP_016885252.1:n.371-166_371-165insGCTA | |
| XM_017029764.1:c.304+120_304+121insGCTA | XP_016885253.1:n.304+120_304+121insGCTA | |
| XM_017029765.2:c.245-166_245-165insGCTA | XP_016885254.1:n.245-166_245-165insGCTA | |
| XM_024452431.1:c.425-166_425-165insGCTA | XP_024308199.1:n.425-166_425-165insGCTA | |
| NM_000116.5:c.583+120_583+121insGCTA MANE Select | NP_000107.1:n.583+120_583+121insGCTA | |
| NM_001303465.2:c.596-166_596-165insGCTA | NP_001290394.1:n.596-166_596-165insGCTA | |
| NM_181311.4:c.493+120_493+121insGCTA | NP_851828.1:n.493+120_493+121insGCTA | |
| NM_181312.4:c.542-166_542-165insGCTA | NP_851829.1:n.542-166_542-165insGCTA | |
| NM_181313.4:c.452-166_452-165insGCTA | NP_851830.1:n.452-166_452-165insGCTA | |
| NR_024048.3:n.904+120_904+121insGCTA |