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.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71602699_71602719delinsACTAATAGAGAACTTTTTCCC , CM000664.2:g.71602699_71602719delinsACTAATAGAGAACTTTTTCCC | GRCh38 |
| NC_000002.11:g.71829829_71829849delinsACTAATAGAGAACTTTTTCCC , CM000664.1:g.71829829_71829849delinsACTAATAGAGAACTTTTTCCC | GRCh37 |
| NC_000002.10:g.71683337_71683357delinsACTAATAGAGAACTTTTTCCC | NCBI36 |
| NG_008694.1:g.154077_154097delinsACTAATAGAGAACTTTTTCCC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698057.1:c.1300-77_1300-57delinsACTAATAGAGAACTTTTTCCC | ENSP00000513536.1:n.1300-77_1300-57delinsACTAATAGAGAACTTTTTCC... | |
| ENST00000698058.1:c.517-77_517-57delinsACTAATAGAGAACTTTTTCCC | ENSP00000513537.1:n.517-77_517-57delinsACTAATAGAGAACTTTTTCCC | |
| ENST00000698059.1:c.517-77_517-57delinsACTAATAGAGAACTTTTTCCC | ENSP00000513538.1:n.517-77_517-57delinsACTAATAGAGAACTTTTTCCC | |
| ENST00000258104.8:c.3874-77_3874-57delinsACTAATAGAGAACTTTTTCCC MANE Plus Clinical | ENSP00000258104.3:n.3874-77_3874-57delinsACTAATAGAGAACTTTTTCC... | |
| ENST00000410020.8:c.3928-77_3928-57delinsACTAATAGAGAACTTTTTCCC MANE Select | ENSP00000386881.3:n.3928-77_3928-57delinsACTAATAGAGAACTTTTTCC... | |
| ENST00000258104.7:c.3874-77_3874-57delinsACTAATAGAGAACTTTTTCCC | ENSP00000258104.3:n.3874-77_3874-57delinsACTAATAGAGAACTTTTTCC... | |
| ENST00000394120.6:c.3877-77_3877-57delinsACTAATAGAGAACTTTTTCCC | ENSP00000377678.2:n.3877-77_3877-57delinsACTAATAGAGAACTTTTTCC... | |
| ENST00000409366.5:c.3877-77_3877-57delinsACTAATAGAGAACTTTTTCCC | ENSP00000386512.1:n.3877-77_3877-57delinsACTAATAGAGAACTTTTTCC... | |
| ENST00000409582.7:c.3925-77_3925-57delinsACTAATAGAGAACTTTTTCCC | ENSP00000386547.3:n.3925-77_3925-57delinsACTAATAGAGAACTTTTTCC... | |
| ENST00000409651.5:c.3970-77_3970-57delinsACTAATAGAGAACTTTTTCCC | ENSP00000386683.1:n.3970-77_3970-57delinsACTAATAGAGAACTTTTTCC... | |
| ENST00000409744.5:c.3835-77_3835-57delinsACTAATAGAGAACTTTTTCCC | ENSP00000386285.1:n.3835-77_3835-57delinsACTAATAGAGAACTTTTTCC... | |
| ENST00000409762.5:c.3925-77_3925-57delinsACTAATAGAGAACTTTTTCCC | ENSP00000387137.1:n.3925-77_3925-57delinsACTAATAGAGAACTTTTTCC... | |
| ENST00000410020.7:c.3928-77_3928-57delinsACTAATAGAGAACTTTTTCCC | ENSP00000386881.3:n.3928-77_3928-57delinsACTAATAGAGAACTTTTTCC... | |
| ENST00000410041.1:c.3928-77_3928-57delinsACTAATAGAGAACTTTTTCCC | ENSP00000386617.1:n.3928-77_3928-57delinsACTAATAGAGAACTTTTTCC... | |
| ENST00000413539.6:c.3967-77_3967-57delinsACTAATAGAGAACTTTTTCCC | ENSP00000407046.2:n.3967-77_3967-57delinsACTAATAGAGAACTTTTTCC... | |
| ENST00000429174.6:c.3874-77_3874-57delinsACTAATAGAGAACTTTTTCCC | ENSP00000398305.2:n.3874-77_3874-57delinsACTAATAGAGAACTTTTTCC... | |
| ENST00000472873.5:n.258-77_258-57delinsACTAATAGAGAACTTTTTCCC | ||
| ENST00000479049.6:n.759-77_759-57delinsACTAATAGAGAACTTTTTCCC | ||
| ENST00000487180.5:n.16_36delinsACTAATAGAGAACTTTTTCCC | ||
| ENST00000494501.5:n.234-77_234-57delinsACTAATAGAGAACTTTTTCCC | ||
| NM_001130455.1:c.3877-77_3877-57delinsACTAATAGAGAACTTTTTCCC | NP_001123927.1:n.3877-77_3877-57delinsACTAATAGAGAACTTTTTCCC | |
| NM_001130976.1:c.3832-77_3832-57delinsACTAATAGAGAACTTTTTCCC | NP_001124448.1:n.3832-77_3832-57delinsACTAATAGAGAACTTTTTCCC | |
| NM_001130977.1:c.3832-77_3832-57delinsACTAATAGAGAACTTTTTCCC | NP_001124449.1:n.3832-77_3832-57delinsACTAATAGAGAACTTTTTCCC | |
| NM_001130978.1:c.3874-77_3874-57delinsACTAATAGAGAACTTTTTCCC | NP_001124450.1:n.3874-77_3874-57delinsACTAATAGAGAACTTTTTCCC | |
| NM_001130979.1:c.3967-77_3967-57delinsACTAATAGAGAACTTTTTCCC | NP_001124451.1:n.3967-77_3967-57delinsACTAATAGAGAACTTTTTCCC | |
| NM_001130980.1:c.3925-77_3925-57delinsACTAATAGAGAACTTTTTCCC | NP_001124452.1:n.3925-77_3925-57delinsACTAATAGAGAACTTTTTCCC | |
| NM_001130981.1:c.3925-77_3925-57delinsACTAATAGAGAACTTTTTCCC | NP_001124453.1:n.3925-77_3925-57delinsACTAATAGAGAACTTTTTCCC | |
| NM_001130982.1:c.3970-77_3970-57delinsACTAATAGAGAACTTTTTCCC | NP_001124454.1:n.3970-77_3970-57delinsACTAATAGAGAACTTTTTCCC | |
| NM_001130983.1:c.3877-77_3877-57delinsACTAATAGAGAACTTTTTCCC | NP_001124455.1:n.3877-77_3877-57delinsACTAATAGAGAACTTTTTCCC | |
| NM_001130984.1:c.3835-77_3835-57delinsACTAATAGAGAACTTTTTCCC | NP_001124456.1:n.3835-77_3835-57delinsACTAATAGAGAACTTTTTCCC | |
| NM_001130985.1:c.3928-77_3928-57delinsACTAATAGAGAACTTTTTCCC | NP_001124457.1:n.3928-77_3928-57delinsACTAATAGAGAACTTTTTCCC | |
| NM_001130986.1:c.3835-77_3835-57delinsACTAATAGAGAACTTTTTCCC | NP_001124458.1:n.3835-77_3835-57delinsACTAATAGAGAACTTTTTCCC | |
| NM_001130987.1:c.3928-77_3928-57delinsACTAATAGAGAACTTTTTCCC | NP_001124459.1:n.3928-77_3928-57delinsACTAATAGAGAACTTTTTCCC | |
| NM_003494.3:c.3874-77_3874-57delinsACTAATAGAGAACTTTTTCCC | NP_003485.1:n.3874-77_3874-57delinsACTAATAGAGAACTTTTTCCC | |
| XM_005264584.3:c.3970-77_3970-57delinsACTAATAGAGAACTTTTTCCC | XP_005264641.1:n.3970-77_3970-57delinsACTAATAGAGAACTTTTTCCC | |
| XM_005264585.3:c.3967-77_3967-57delinsACTAATAGAGAACTTTTTCCC | XP_005264642.1:n.3967-77_3967-57delinsACTAATAGAGAACTTTTTCCC | |
| XM_005264584.4:c.3970-77_3970-57delinsACTAATAGAGAACTTTTTCCC | XP_005264641.1:n.3970-77_3970-57delinsACTAATAGAGAACTTTTTCCC | |
| XM_005264585.5:c.3967-77_3967-57delinsACTAATAGAGAACTTTTTCCC | XP_005264642.1:n.3967-77_3967-57delinsACTAATAGAGAACTTTTTCCC | |
| XR_001738969.1:n.4128-77_4128-57delinsACTAATAGAGAACTTTTTCCC | ||
| NM_001130987.2:c.3928-77_3928-57delinsACTAATAGAGAACTTTTTCCC MANE Select | NP_001124459.1:n.3928-77_3928-57delinsACTAATAGAGAACTTTTTCCC | |
| NM_001130455.2:c.3877-77_3877-57delinsACTAATAGAGAACTTTTTCCC | NP_001123927.1:n.3877-77_3877-57delinsACTAATAGAGAACTTTTTCCC | |
| NM_001130976.2:c.3832-77_3832-57delinsACTAATAGAGAACTTTTTCCC | NP_001124448.1:n.3832-77_3832-57delinsACTAATAGAGAACTTTTTCCC | |
| NM_001130977.2:c.3832-77_3832-57delinsACTAATAGAGAACTTTTTCCC | NP_001124449.1:n.3832-77_3832-57delinsACTAATAGAGAACTTTTTCCC | |
| NM_001130978.2:c.3874-77_3874-57delinsACTAATAGAGAACTTTTTCCC | NP_001124450.1:n.3874-77_3874-57delinsACTAATAGAGAACTTTTTCCC | |
| NM_001130979.2:c.3967-77_3967-57delinsACTAATAGAGAACTTTTTCCC | NP_001124451.1:n.3967-77_3967-57delinsACTAATAGAGAACTTTTTCCC | |
| NM_001130980.2:c.3925-77_3925-57delinsACTAATAGAGAACTTTTTCCC | NP_001124452.1:n.3925-77_3925-57delinsACTAATAGAGAACTTTTTCCC | |
| NM_001130981.2:c.3925-77_3925-57delinsACTAATAGAGAACTTTTTCCC | NP_001124453.1:n.3925-77_3925-57delinsACTAATAGAGAACTTTTTCCC | |
| NM_001130982.2:c.3970-77_3970-57delinsACTAATAGAGAACTTTTTCCC | NP_001124454.1:n.3970-77_3970-57delinsACTAATAGAGAACTTTTTCCC | |
| NM_001130983.2:c.3877-77_3877-57delinsACTAATAGAGAACTTTTTCCC | NP_001124455.1:n.3877-77_3877-57delinsACTAATAGAGAACTTTTTCCC | |
| NM_001130984.2:c.3835-77_3835-57delinsACTAATAGAGAACTTTTTCCC | NP_001124456.1:n.3835-77_3835-57delinsACTAATAGAGAACTTTTTCCC | |
| NM_001130985.2:c.3928-77_3928-57delinsACTAATAGAGAACTTTTTCCC | NP_001124457.1:n.3928-77_3928-57delinsACTAATAGAGAACTTTTTCCC | |
| NM_001130986.2:c.3835-77_3835-57delinsACTAATAGAGAACTTTTTCCC | NP_001124458.1:n.3835-77_3835-57delinsACTAATAGAGAACTTTTTCCC | |
| NM_003494.4:c.3874-77_3874-57delinsACTAATAGAGAACTTTTTCCC MANE Plus Clinical | NP_003485.1:n.3874-77_3874-57delinsACTAATAGAGAACTTTTTCCC |