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:
254279
dbSNP Id:
rs571303442
gnomAD v2:
14-89077291-ATTCAAATTCGTTTTTCTCATGTCAG-A
gnomAD v3:
14-88610947-ATTCAAATTCGTTTTTCTCATGTCAG-A
gnomAD v4:
14-88610947-ATTCAAATTCGTTTTTCTCATGTCAG-A
MyVariant Identifiers:
chr14:g.89077301_89077325del (hg19)
chr14:g.89077292_89077316del (hg19)
chr14:g.88610957_88610981del (hg38)
chr14:g.88610949_88610973del (hg38)
chr14:g.88610948_88610972del (hg38)
PubMed:
PMID:21734151
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.88610957_88610981del , CM000676.2:g.88610957_88610981del | GRCh38 |
| NC_000014.8:g.89077301_89077325del , CM000676.1:g.89077301_89077325del | GRCh37 |
| NC_000014.7:g.88147054_88147078del | NCBI36 |
| NG_050601.1:g.53049_53073del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251038.10:c.2204+17_2204+41del MANE Select | ENSP00000251038.5:n.2204+17_2204+41del | |
| ENST00000649731.1:c.*1412+17_*1412+41del | ENSP00000497757.1:n.*1412+17_*1412+41del | |
| ENST00000251038.9:c.2204+17_2204+41del | ENSP00000251038.5:n.2204+17_2204+41del | |
| ENST00000302216.12:c.1733+17_1733+41del | ENSP00000307025.8:n.1733+17_1733+41del | |
| ENST00000318308.10:c.914+17_914+41del | ENSP00000327176.6:n.914+17_914+41del | |
| ENST00000336693.8:c.1709+17_1709+41del | ENSP00000338002.4:n.1709+17_1709+41del | |
| ENST00000393514.9:c.2129+17_2129+41del | ENSP00000377150.5:n.2129+17_2129+41del | |
| ENST00000406216.7:c.842+17_842+41del | ENSP00000384682.3:n.842+17_842+41del | |
| ENST00000554020.5:n.1047+17_1047+41del | ||
| ENST00000555755.5:c.2186+17_2186+41del | ENSP00000452475.1:n.2186+17_2186+41del | |
| ENST00000555792.1:c.449+17_449+41del | ENSP00000450823.1:n.449+17_449+41del | |
| ENST00000555851.6:n.363+17_363+41del | ||
| ENST00000555900.5:c.1310+17_1310+41del | ENSP00000451530.1:n.1310+17_1310+41del | |
| ENST00000556000.5:c.1948+17_1948+41del | ||
| ENST00000556945.5:c.1811+17_1811+41del | ENSP00000450474.1:n.1811+17_1811+41del | |
| ENST00000557491.1:n.1489+17_1489+41del | ||
| ENST00000557607.5:c.1256+17_1256+41del | ENSP00000452370.1:n.1256+17_1256+41del | |
| NM_001160103.1:c.2201+17_2201+41del | NP_001153575.1:n.2201+17_2201+41del | |
| NM_001160104.1:c.2186+17_2186+41del | NP_001153576.1:n.2186+17_2186+41del | |
| NM_024824.4:c.2204+17_2204+41del | NP_079100.2:n.2204+17_2204+41del | |
| NM_207660.3:c.1733+17_1733+41del | NP_997543.1:n.1733+17_1733+41del | |
| NM_207661.2:c.1709+17_1709+41del | NP_997544.1:n.1709+17_1709+41del | |
| NM_207662.3:c.914+17_914+41del | NP_997545.2:n.914+17_914+41del | |
| XM_005268067.3:c.2189+17_2189+41del | XP_005268124.1:n.2189+17_2189+41del | |
| XM_005268068.3:c.2129+17_2129+41del | XP_005268125.1:n.2129+17_2129+41del | |
| XM_005268069.3:c.1811+17_1811+41del | XP_005268126.1:n.1811+17_1811+41del | |
| XM_005268070.3:c.1808+17_1808+41del | XP_005268127.1:n.1808+17_1808+41del | |
| XM_005268071.3:c.1736+17_1736+41del | XP_005268128.1:n.1736+17_1736+41del | |
| XM_005268073.3:c.1310+17_1310+41del | XP_005268130.1:n.1310+17_1310+41del | |
| XM_006720257.2:c.1235+17_1235+41del | XP_006720320.1:n.1235+17_1235+41del | |
| XM_011537160.1:c.2102+17_2102+41del | XP_011535462.1:n.2102+17_2102+41del | |
| XM_011537161.1:c.2048+17_2048+41del | XP_011535463.1:n.2048+17_2048+41del | |
| NM_001326295.1:c.1811+17_1811+41del | NP_001313224.1:n.1811+17_1811+41del | |
| NM_001326296.1:c.2126+17_2126+41del | NP_001313225.1:n.2126+17_2126+41del | |
| NM_001326297.1:c.2102+17_2102+41del | NP_001313226.1:n.2102+17_2102+41del | |
| NM_001326298.1:c.1736+17_1736+41del | NP_001313227.1:n.1736+17_1736+41del | |
| NM_001326299.1:c.2111+17_2111+41del | NP_001313228.1:n.2111+17_2111+41del | |
| NM_001326300.1:c.1739+17_1739+41del | NP_001313229.1:n.1739+17_1739+41del | |
| NM_001326301.1:c.2027+17_2027+41del | NP_001313230.1:n.2027+17_2027+41del | |
| NM_001326302.1:c.1736+17_1736+41del | NP_001313231.1:n.1736+17_1736+41del | |
| NM_001326303.1:c.1631+17_1631+41del | NP_001313232.1:n.1631+17_1631+41del | |
| NM_001326304.1:c.1343+17_1343+41del | NP_001313233.1:n.1343+17_1343+41del | |
| NM_001326305.1:c.1664+17_1664+41del | NP_001313234.1:n.1664+17_1664+41del | |
| NM_001326306.1:c.1577+17_1577+41del | NP_001313235.1:n.1577+17_1577+41del | |
| NM_001326307.1:c.2129+17_2129+41del | NP_001313236.1:n.2129+17_2129+41del | |
| NM_001326308.1:c.1346+17_1346+41del | NP_001313237.1:n.1346+17_1346+41del | |
| NM_001326309.1:c.1271+17_1271+41del | NP_001313238.1:n.1271+17_1271+41del | |
| NM_001326310.1:c.2189+17_2189+41del | NP_001313239.1:n.2189+17_2189+41del | |
| NM_001326311.1:c.1268+17_1268+41del | NP_001313240.1:n.1268+17_1268+41del | |
| NM_001326312.1:c.2114+17_2114+41del | NP_001313241.1:n.2114+17_2114+41del | |
| NM_001326313.1:c.1580+17_1580+41del | NP_001313242.1:n.1580+17_1580+41del | |
| NM_001326314.1:c.1661+17_1661+41del | NP_001313243.1:n.1661+17_1661+41del | |
| NM_001326315.1:c.2099+17_2099+41del | NP_001313244.1:n.2099+17_2099+41del | |
| NM_001326316.1:c.2099+17_2099+41del | NP_001313245.1:n.2099+17_2099+41del | |
| NR_136936.1:n.2269+17_2269+41del | ||
| XM_005268070.5:c.1808+17_1808+41del | XP_005268127.1:n.1808+17_1808+41del | |
| XM_005268073.4:c.1310+17_1310+41del | XP_005268130.1:n.1310+17_1310+41del | |
| XM_006720257.3:c.1235+17_1235+41del | XP_006720320.1:n.1235+17_1235+41del | |
| XM_011537161.3:c.2048+17_2048+41del | XP_011535463.1:n.2048+17_2048+41del | |
| XM_024449713.1:c.1232+17_1232+41del | XP_024305481.1:n.1232+17_1232+41del | |
| NM_024824.5:c.2204+17_2204+41del MANE Select | NP_079100.2:n.2204+17_2204+41del | |
| NM_001160103.2:c.2201+17_2201+41del | NP_001153575.1:n.2201+17_2201+41del | |
| NM_001160104.2:c.2186+17_2186+41del | NP_001153576.1:n.2186+17_2186+41del | |
| NM_001326295.2:c.1811+17_1811+41del | NP_001313224.1:n.1811+17_1811+41del | |
| NM_001326296.2:c.2126+17_2126+41del | NP_001313225.1:n.2126+17_2126+41del | |
| NM_001326297.2:c.2102+17_2102+41del | NP_001313226.1:n.2102+17_2102+41del | |
| NM_001326298.2:c.1736+17_1736+41del | NP_001313227.1:n.1736+17_1736+41del | |
| NM_001326299.2:c.2111+17_2111+41del | NP_001313228.1:n.2111+17_2111+41del | |
| NM_001326300.2:c.1739+17_1739+41del | NP_001313229.1:n.1739+17_1739+41del | |
| NM_001326301.2:c.2027+17_2027+41del | NP_001313230.1:n.2027+17_2027+41del | |
| NM_001326302.2:c.1736+17_1736+41del | NP_001313231.1:n.1736+17_1736+41del | |
| NM_001326303.2:c.1631+17_1631+41del | NP_001313232.1:n.1631+17_1631+41del | |
| NM_001326304.2:c.1343+17_1343+41del | NP_001313233.1:n.1343+17_1343+41del | |
| NM_001326305.2:c.1664+17_1664+41del | NP_001313234.1:n.1664+17_1664+41del | |
| NM_001326306.2:c.1577+17_1577+41del | NP_001313235.1:n.1577+17_1577+41del | |
| NM_001326307.2:c.2129+17_2129+41del | NP_001313236.1:n.2129+17_2129+41del | |
| NM_001326308.2:c.1346+17_1346+41del | NP_001313237.1:n.1346+17_1346+41del | |
| NM_001326309.2:c.1271+17_1271+41del | NP_001313238.1:n.1271+17_1271+41del | |
| NM_001326310.2:c.2189+17_2189+41del | NP_001313239.1:n.2189+17_2189+41del | |
| NM_001326311.2:c.1268+17_1268+41del | NP_001313240.1:n.1268+17_1268+41del | |
| NM_001326312.2:c.2114+17_2114+41del | NP_001313241.1:n.2114+17_2114+41del | |
| NM_001326313.2:c.1580+17_1580+41del | NP_001313242.1:n.1580+17_1580+41del | |
| NM_001326314.2:c.1661+17_1661+41del | NP_001313243.1:n.1661+17_1661+41del | |
| NM_001326315.2:c.2099+17_2099+41del | NP_001313244.1:n.2099+17_2099+41del | |
| NM_207660.4:c.1733+17_1733+41del | NP_997543.1:n.1733+17_1733+41del | |
| NM_207662.4:c.914+17_914+41del | NP_997545.2:n.914+17_914+41del | |
| NR_136936.2:n.2141+17_2141+41del | ||
| NM_001326316.2:c.2099+17_2099+41del | NP_001313245.1:n.2099+17_2099+41del | |
| NM_207661.3:c.1709+17_1709+41del | NP_997544.1:n.1709+17_1709+41del |