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
ClinVar Variation Id:
217666
ClinVar RCV Id:
RCV000201567
dbSNP Id:
rs869312856
MyVariant Identifiers:
chr14:g.58923437_58923440delinsGA (hg19)
chr14:g.58456719_58456722delinsGA (hg38)
PubMed:
PMID:26096313
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.58456719_58456722delinsGA , CM000676.2:g.58456719_58456722delinsGA | GRCh38 |
| NC_000014.8:g.58923437_58923440delinsGA , CM000676.1:g.58923437_58923440delinsGA | GRCh37 |
| NC_000014.7:g.57993190_57993193delinsGA | NCBI36 |
| NG_051335.2:g.34335_34338delinsGA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000619722.5:c.1016_1019delinsGA | ENSP00000481936.1:p.Glu339GlyfsTer5 | |
| ENST00000650845.1:n.1817_1820delinsGA | ||
| ENST00000650904.1:c.1271_1274delinsGA | ENSP00000498606.1:p.Glu424GlyfsTer5 | |
| ENST00000651759.1:c.20_23delinsGA | ENSP00000498415.1:p.Glu7GlyfsTer5 | |
| ENST00000651937.1:c.1226_1229delinsGA | ENSP00000498785.1:p.Glu409GlyfsTer5 | |
| ENST00000652120.1:n.1023_1026delinsGA | ||
| ENST00000652326.2:c.1271_1274delinsGA MANE Select | ENSP00000498929.1:p.Glu424GlyfsTer5 | |
| ENST00000652732.1:c.*837_*840delinsGA | ENSP00000498799.1:n.*837_*840delinsGA | |
| ENST00000676447.1:n.412_415delinsGA | ||
| ENST00000261244.9:c.1271_1274delinsGA | ENSP00000261244.5:p.Glu424GlyfsTer5 | |
| ENST00000354386.10:c.1430_1433delinsGA | ENSP00000346359.6:p.Glu477GlyfsTer5 | |
| ENST00000423743.7:c.1139_1142delinsGA | ENSP00000399427.3:p.Glu380GlyfsTer5 | |
| ENST00000538571.6:n.861_864delinsGA | ||
| ENST00000556134.5:c.1139_1142delinsGA | ENSP00000452351.2:p.Glu380GlyfsTer5 | |
| ENST00000619416.4:c.1226_1229delinsGA | ENSP00000478083.1:p.Glu409GlyfsTer5 | |
| ENST00000619722.4:c.1016_1019delinsGA | ENSP00000481936.1:p.Glu339GlyfsTer5 | |
| NM_001244189.1:c.1430_1433delinsGA | NP_001231118.1:p.Glu477GlyfsTer5 | |
| NM_001244190.1:c.1226_1229delinsGA | NP_001231119.1:p.Glu409GlyfsTer5 | |
| NM_001244191.1:c.1016_1019delinsGA | NP_001231120.1:p.Glu339GlyfsTer5 | |
| NM_001244192.1:c.1139_1142delinsGA | NP_001231121.1:p.Glu380GlyfsTer5 | |
| NM_001244193.1:c.851_854delinsGA | NP_001231122.1:p.Glu284GlyfsTer5 | |
| NM_014749.3:c.1271_1274delinsGA | NP_055564.3:p.Glu424GlyfsTer5 | |
| NM_001329943.2:c.1271_1274delinsGA | NP_001316872.1:p.Glu424GlyfsTer5 | |
| NM_001329944.1:c.1271_1274delinsGA | NP_001316873.1:p.Glu424GlyfsTer5 | |
| NM_001329945.1:c.1016_1019delinsGA | NP_001316874.1:p.Glu339GlyfsTer5 | |
| NM_001329946.1:c.1271_1274delinsGA | NP_001316875.1:p.Glu424GlyfsTer5 | |
| NM_001329947.1:c.1271_1274delinsGA | NP_001316876.1:p.Glu424GlyfsTer5 | |
| NM_001364700.1:c.1016_1019delinsGA | NP_001351629.1:p.Glu339GlyfsTer5 | |
| NM_001364701.1:c.1016_1019delinsGA | NP_001351630.1:p.Glu339GlyfsTer5 | |
| NM_014749.4:c.1271_1274delinsGA | NP_055564.3:p.Glu424GlyfsTer5 | |
| XM_024449779.1:c.1394_1397delinsGA | XP_024305547.1:p.Glu465GlyfsTer5 | |
| XM_024449780.1:c.1295_1298delinsGA | XP_024305548.1:p.Glu432GlyfsTer5 | |
| XM_024449781.1:c.1394_1397delinsGA | XP_024305549.1:p.Glu465GlyfsTer5 | |
| XM_024449782.1:c.1040_1043delinsGA | XP_024305550.1:p.Glu347GlyfsTer5 | |
| XM_024449783.1:c.1040_1043delinsGA | XP_024305551.1:p.Glu347GlyfsTer5 | |
| XM_024449784.1:c.1040_1043delinsGA | XP_024305552.1:p.Glu347GlyfsTer5 | |
| XM_024449785.1:c.1016_1019delinsGA | XP_024305553.1:p.Glu339GlyfsTer5 | |
| XM_024449787.1:c.875_878delinsGA | XP_024305555.1:p.Glu292GlyfsTer5 | |
| XM_024449788.1:c.851_854delinsGA | XP_024305556.1:p.Glu284GlyfsTer5 | |
| XM_024449789.1:c.851_854delinsGA | XP_024305557.1:p.Glu284GlyfsTer5 | |
| XM_024449791.1:c.1295_1298delinsGA | XP_024305559.1:p.Glu432GlyfsTer5 | |
| NM_001244189.2:c.1430_1433delinsGA | NP_001231118.1:p.Glu477GlyfsTer5 | |
| NM_001244190.2:c.1226_1229delinsGA | NP_001231119.1:p.Glu409GlyfsTer5 | |
| NM_001244192.2:c.1139_1142delinsGA | NP_001231121.1:p.Glu380GlyfsTer5 | |
| NM_001329943.3:c.1271_1274delinsGA MANE Select | NP_001316872.1:p.Glu424GlyfsTer5 | |
| NM_001329944.2:c.1271_1274delinsGA | NP_001316873.1:p.Glu424GlyfsTer5 | |
| NM_001329945.2:c.1016_1019delinsGA | NP_001316874.1:p.Glu339GlyfsTer5 | |
| NM_001329946.2:c.1271_1274delinsGA | NP_001316875.1:p.Glu424GlyfsTer5 | |
| NM_001329947.2:c.1271_1274delinsGA | NP_001316876.1:p.Glu424GlyfsTer5 | |
| NM_001364701.2:c.1016_1019delinsGA | NP_001351630.1:p.Glu339GlyfsTer5 | |
| NM_014749.5:c.1271_1274delinsGA | NP_055564.3:p.Glu424GlyfsTer5 | |
| NM_001244191.2:c.1016_1019delinsGA | NP_001231120.1:p.Glu339GlyfsTer5 | |
| NM_001244193.2:c.851_854delinsGA | NP_001231122.1:p.Glu284GlyfsTer5 |