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:
rs1375957728
gnomAD v2:
3-4829553-G-GA
gnomAD v3:
3-4787869-G-GA
gnomAD v4:
3-4787869-G-GA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.4787869_4787870insA , CM000665.2:g.4787869_4787870insA | GRCh38 |
| NC_000003.11:g.4829553_4829554insA , CM000665.1:g.4829553_4829554insA | GRCh37 |
| NC_000003.10:g.4804553_4804554insA | NCBI36 |
| NG_016144.1:g.299522_299523insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302640.13:c.6627-78_6627-77insA | ENSP00000306253.9:n.6627-78_6627-77insA | |
| ENST00000354582.12:c.6592-78_6592-77insA | ENSP00000346595.8:n.6592-78_6592-77insA | |
| ENST00000443694.5:c.6571-78_6571-77insA | ENSP00000401671.2:n.6571-78_6571-77insA | |
| ENST00000354582.11:c.6592-78_6592-77insA | ENSP00000346595.8:n.6592-78_6592-77insA | |
| ENST00000357086.10:c.6472-78_6472-77insA | ENSP00000349597.4:n.6472-78_6472-77insA | |
| ENST00000443694.4:c.6571-78_6571-77insA | ENSP00000401671.2:n.6571-78_6571-77insA | |
| ENST00000456211.8:c.6427-78_6427-77insA | ENSP00000397885.2:n.6427-78_6427-77insA | |
| ENST00000481415.2:n.508-78_508-77insA | ||
| ENST00000544951.6:c.997-18234_997-18233insA | ENSP00000440564.1:n.997-18234_997-18233insA | |
| ENST00000647708.1:c.2515-78_2515-77insA | ||
| ENST00000647717.1:n.4120-78_4120-77insA | ||
| ENST00000648016.1:c.2951-78_2951-77insA | ||
| ENST00000648038.1:c.4378-78_4378-77insA | ENSP00000497872.1:n.4378-78_4378-77insA | |
| ENST00000648212.1:c.3524-78_3524-77insA | ||
| ENST00000648266.1:c.6589-78_6589-77insA | ENSP00000498014.1:n.6589-78_6589-77insA | |
| ENST00000648309.1:c.6544-78_6544-77insA | ENSP00000497026.1:n.6544-78_6544-77insA | |
| ENST00000648390.1:c.447-58270_447-58269insA | ||
| ENST00000648431.1:c.3918-78_3918-77insA | ||
| ENST00000648510.1:n.450-78_450-77insA | ||
| ENST00000649015.2:c.6616-78_6616-77insA MANE Select | ENSP00000497605.1:n.6616-78_6616-77insA | |
| ENST00000649144.1:n.1664-78_1664-77insA | ||
| ENST00000649272.1:n.178-78_178-77insA | ||
| ENST00000649694.1:n.4101-78_4101-77insA | ||
| ENST00000650294.1:c.6574-78_6574-77insA | ENSP00000498056.1:n.6574-78_6574-77insA | |
| ENST00000302640.12:c.6571-78_6571-77insA | ENSP00000306253.8:n.6571-78_6571-77insA | |
| ENST00000354582.10:c.6616-78_6616-77insA | ENSP00000346595.7:n.6616-78_6616-77insA | |
| ENST00000357086.9:c.6472-78_6472-77insA | ENSP00000349597.4:n.6472-78_6472-77insA | |
| ENST00000443694.3:c.6571-78_6571-77insA | ENSP00000401671.2:n.6571-78_6571-77insA | |
| ENST00000456211.7:c.6427-78_6427-77insA | ENSP00000397885.2:n.6427-78_6427-77insA | |
| ENST00000481415.1:n.508-78_508-77insA | ||
| ENST00000544951.5:c.997-18234_997-18233insA | ENSP00000440564.1:n.997-18234_997-18233insA | |
| NM_001099952.2:c.6472-78_6472-77insA | NP_001093422.2:n.6472-78_6472-77insA | |
| NM_001168272.1:c.6571-78_6571-77insA | NP_001161744.1:n.6571-78_6571-77insA | |
| NM_002222.5:c.6427-78_6427-77insA | NP_002213.5:n.6427-78_6427-77insA | |
| XM_005265109.2:c.6547-78_6547-77insA | XP_005265166.1:n.6547-78_6547-77insA | |
| XM_005265110.2:c.6499-78_6499-77insA | XP_005265167.1:n.6499-78_6499-77insA | |
| XM_006713131.2:c.6550-78_6550-77insA | XP_006713194.1:n.6550-78_6550-77insA | |
| XM_011533681.1:c.6619-78_6619-77insA | XP_011531983.1:n.6619-78_6619-77insA | |
| XM_011533682.1:c.6619-78_6619-77insA | XP_011531984.1:n.6619-78_6619-77insA | |
| XM_011533683.1:c.6616-78_6616-77insA | XP_011531985.1:n.6616-78_6616-77insA | |
| XM_011533684.1:c.6592-78_6592-77insA | XP_011531986.1:n.6592-78_6592-77insA | |
| XM_011533685.1:c.6586-78_6586-77insA | XP_011531987.1:n.6586-78_6586-77insA | |
| XM_011533686.1:c.6583-78_6583-77insA | XP_011531988.1:n.6583-78_6583-77insA | |
| XM_011533687.1:c.6574-78_6574-77insA | XP_011531989.1:n.6574-78_6574-77insA | |
| XM_011533688.1:c.6547-78_6547-77insA | XP_011531990.1:n.6547-78_6547-77insA | |
| XM_011533689.1:c.6508-78_6508-77insA | XP_011531991.1:n.6508-78_6508-77insA | |
| XM_011533690.1:c.6619-78_6619-77insA | XP_011531992.1:n.6619-78_6619-77insA | |
| XM_005265109.3:c.6547-78_6547-77insA | XP_005265166.1:n.6547-78_6547-77insA | |
| XM_005265110.3:c.6499-78_6499-77insA | XP_005265167.1:n.6499-78_6499-77insA | |
| XM_006713131.3:c.6550-78_6550-77insA | XP_006713194.1:n.6550-78_6550-77insA | |
| XM_011533682.3:c.6619-78_6619-77insA | XP_011531984.1:n.6619-78_6619-77insA | |
| XM_011533683.3:c.6616-78_6616-77insA | XP_011531985.1:n.6616-78_6616-77insA | |
| XM_011533684.2:c.6592-78_6592-77insA | XP_011531986.1:n.6592-78_6592-77insA | |
| XM_011533685.2:c.6586-78_6586-77insA | XP_011531987.1:n.6586-78_6586-77insA | |
| XM_011533686.2:c.6583-78_6583-77insA | XP_011531988.1:n.6583-78_6583-77insA | |
| XM_011533687.2:c.6574-78_6574-77insA | XP_011531989.1:n.6574-78_6574-77insA | |
| XM_011533688.2:c.6547-78_6547-77insA | XP_011531990.1:n.6547-78_6547-77insA | |
| XM_011533690.2:c.6619-78_6619-77insA | XP_011531992.1:n.6619-78_6619-77insA | |
| XM_017006357.2:c.6616-78_6616-77insA | XP_016861846.1:n.6616-78_6616-77insA | |
| NM_001099952.3:c.6472-78_6472-77insA | NP_001093422.2:n.6472-78_6472-77insA | |
| NM_002222.6:c.6427-78_6427-77insA | NP_002213.5:n.6427-78_6427-77insA | |
| NM_001099952.4:c.6472-78_6472-77insA | NP_001093422.2:n.6472-78_6472-77insA | |
| NM_001168272.2:c.6571-78_6571-77insA | NP_001161744.1:n.6571-78_6571-77insA | |
| NM_001378452.1:c.6616-78_6616-77insA MANE Select | NP_001365381.1:n.6616-78_6616-77insA | |
| NM_002222.7:c.6427-78_6427-77insA | NP_002213.5:n.6427-78_6427-77insA |