Linked Data
dbSNP Id:
rs1448263447
gnomAD v2:
4-23874845-AAT-A
gnomAD v3:
4-23873222-AAT-A
gnomAD v4:
4-23873222-AAT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.23873224_23873225del , CM000666.2:g.23873224_23873225del | GRCh38 |
| NC_000004.11:g.23874847_23874848del , CM000666.1:g.23874847_23874848del | GRCh37 |
| NC_000004.10:g.23483945_23483946del | NCBI36 |
| NG_028250.1:g.21854_21855del | |
| NG_028250.2:g.604752_604753del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264867.7:c.234+11528_234+11529del MANE Select | ENSP00000264867.2:n.234+11528_234+11529del | |
| ENST00000264867.6:c.234+11528_234+11529del | ENSP00000264867.2:n.234+11528_234+11529del | |
| ENST00000506055.5:c.234+11528_234+11529del | ENSP00000423075.1:n.234+11528_234+11529del | |
| ENST00000507342.5:n.314+11528_314+11529del | ||
| ENST00000508380.1:n.154+8734_154+8735del | ||
| ENST00000509642.5:n.327+4490_327+4491del | ||
| ENST00000509702.5:n.191+8697_191+8698del | ||
| ENST00000512169.1:n.327+4490_327+4491del | ||
| ENST00000513205.5:c.234+11528_234+11529del | ENSP00000421632.1:n.234+11528_234+11529del | |
| ENST00000515534.5:n.307-6978_307-6977del | ||
| ENST00000612355.1:c.222+11528_222+11529del | ENSP00000479729.1:n.222+11528_222+11529del | |
| ENST00000613098.4:c.-148+7505_-148+7506del | ENSP00000481498.1:n.-148+7505_-148+7506del | |
| ENST00000617484.4:c.222+11528_222+11529del | ENSP00000477921.1:n.222+11528_222+11529del | |
| NM_013261.3:c.234+11528_234+11529del | NP_037393.1:n.234+11528_234+11529del | |
| XM_005248130.2:c.249+11528_249+11529del | XP_005248187.1:n.249+11528_249+11529del | |
| XM_005248131.3:c.246+11528_246+11529del | XP_005248188.1:n.246+11528_246+11529del | |
| XM_005248132.1:c.225+11528_225+11529del | XP_005248189.1:n.225+11528_225+11529del | |
| XM_005248134.3:c.249+11528_249+11529del | XP_005248191.1:n.249+11528_249+11529del | |
| XM_011513764.1:c.234+11528_234+11529del | XP_011512066.1:n.234+11528_234+11529del | |
| XM_011513765.1:c.198+11528_198+11529del | XP_011512067.1:n.198+11528_198+11529del | |
| XM_011513766.1:c.129+4490_129+4491del | XP_011512068.1:n.129+4490_129+4491del | |
| XM_011513767.1:c.129+4490_129+4491del | XP_011512069.1:n.129+4490_129+4491del | |
| XM_011513768.1:c.129+4490_129+4491del | XP_011512070.1:n.129+4490_129+4491del | |
| XM_011513769.1:c.249+11528_249+11529del | XP_011512071.1:n.249+11528_249+11529del | |
| XM_011513770.1:c.-148+7505_-148+7506del | XP_011512072.1:n.-148+7505_-148+7506del | |
| XM_011513771.1:c.-148+8734_-148+8735del | XP_011512073.1:n.-148+8734_-148+8735del | |
| NM_001330751.1:c.249+11528_249+11529del | NP_001317680.1:n.249+11528_249+11529del | |
| NM_001330752.1:c.198+11528_198+11529del | NP_001317681.1:n.198+11528_198+11529del | |
| NM_001330753.1:c.-148+7505_-148+7506del | NP_001317682.1:n.-148+7505_-148+7506del | |
| NM_001354825.1:c.249+11528_249+11529del | NP_001341754.1:n.249+11528_249+11529del | |
| NM_001354826.1:c.-148+11087_-148+11088del | NP_001341755.1:n.-148+11087_-148+11088del | |
| NM_001354827.1:c.249+11528_249+11529del | NP_001341756.1:n.249+11528_249+11529del | |
| NM_013261.4:c.234+11528_234+11529del | NP_037393.1:n.234+11528_234+11529del | |
| NR_148981.1:n.700+11528_700+11529del | ||
| NR_148982.1:n.803+11528_803+11529del | ||
| NR_148983.1:n.956+4490_956+4491del | ||
| NR_148984.1:n.354+11528_354+11529del | ||
| NR_148985.1:n.868+11528_868+11529del | ||
| NR_148986.1:n.700+11528_700+11529del | ||
| NR_148987.1:n.700+11528_700+11529del | ||
| XM_005248131.5:c.246+11528_246+11529del | XP_005248188.1:n.246+11528_246+11529del | |
| XM_005248134.4:c.249+11528_249+11529del | XP_005248191.1:n.249+11528_249+11529del | |
| XM_011513769.2:c.249+11528_249+11529del | XP_011512071.1:n.249+11528_249+11529del | |
| XM_024453878.1:c.249+11528_249+11529del | XP_024309646.1:n.249+11528_249+11529del | |
| NM_013261.5:c.234+11528_234+11529del MANE Select | NP_037393.1:n.234+11528_234+11529del | |
| NM_001330751.2:c.249+11528_249+11529del | NP_001317680.1:n.249+11528_249+11529del | |
| NM_001330752.2:c.198+11528_198+11529del | NP_001317681.1:n.198+11528_198+11529del | |
| NM_001354825.2:c.249+11528_249+11529del | NP_001341754.1:n.249+11528_249+11529del | |
| NM_001354826.2:c.-148+11087_-148+11088del | NP_001341755.1:n.-148+11087_-148+11088del | |
| NM_001354827.2:c.249+11528_249+11529del | NP_001341756.1:n.249+11528_249+11529del | |
| NR_148981.2:n.776+11528_776+11529del | ||
| NR_148982.2:n.879+11528_879+11529del | ||
| NR_148983.2:n.1032+4490_1032+4491del | ||
| NR_148984.2:n.324+11528_324+11529del | ||
| NR_148985.2:n.944+11528_944+11529del | ||
| NR_148986.2:n.776+11528_776+11529del | ||
| NR_148987.2:n.776+11528_776+11529del | ||
| NM_001330753.2:c.-148+7505_-148+7506del | NP_001317682.1:n.-148+7505_-148+7506del |