Linked Data
dbSNP Id:
rs2148779481
gnomAD v3:
4-23873195-CTCAAAAA-C
gnomAD v4:
4-23873195-CTCAAAAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.23873197_23873203del , CM000666.2:g.23873197_23873203del | GRCh38 |
| NC_000004.11:g.23874820_23874826del , CM000666.1:g.23874820_23874826del | GRCh37 |
| NC_000004.10:g.23483918_23483924del | NCBI36 |
| NG_028250.1:g.21876_21882del | |
| NG_028250.2:g.604774_604780del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264867.7:c.234+11550_234+11556del MANE Select | ENSP00000264867.2:n.234+11550_234+11556del | |
| ENST00000264867.6:c.234+11550_234+11556del | ENSP00000264867.2:n.234+11550_234+11556del | |
| ENST00000506055.5:c.234+11550_234+11556del | ENSP00000423075.1:n.234+11550_234+11556del | |
| ENST00000507342.5:n.314+11550_314+11556del | ||
| ENST00000508380.1:n.154+8756_154+8762del | ||
| ENST00000509642.5:n.327+4512_327+4518del | ||
| ENST00000509702.5:n.191+8719_191+8725del | ||
| ENST00000512169.1:n.327+4512_327+4518del | ||
| ENST00000513205.5:c.234+11550_234+11556del | ENSP00000421632.1:n.234+11550_234+11556del | |
| ENST00000515534.5:n.307-6956_307-6950del | ||
| ENST00000612355.1:c.222+11550_222+11556del | ENSP00000479729.1:n.222+11550_222+11556del | |
| ENST00000613098.4:c.-148+7527_-148+7533del | ENSP00000481498.1:n.-148+7527_-148+7533del | |
| ENST00000617484.4:c.222+11550_222+11556del | ENSP00000477921.1:n.222+11550_222+11556del | |
| NM_013261.3:c.234+11550_234+11556del | NP_037393.1:n.234+11550_234+11556del | |
| XM_005248130.2:c.249+11550_249+11556del | XP_005248187.1:n.249+11550_249+11556del | |
| XM_005248131.3:c.246+11550_246+11556del | XP_005248188.1:n.246+11550_246+11556del | |
| XM_005248132.1:c.225+11550_225+11556del | XP_005248189.1:n.225+11550_225+11556del | |
| XM_005248134.3:c.249+11550_249+11556del | XP_005248191.1:n.249+11550_249+11556del | |
| XM_011513764.1:c.234+11550_234+11556del | XP_011512066.1:n.234+11550_234+11556del | |
| XM_011513765.1:c.198+11550_198+11556del | XP_011512067.1:n.198+11550_198+11556del | |
| XM_011513766.1:c.129+4512_129+4518del | XP_011512068.1:n.129+4512_129+4518del | |
| XM_011513767.1:c.129+4512_129+4518del | XP_011512069.1:n.129+4512_129+4518del | |
| XM_011513768.1:c.129+4512_129+4518del | XP_011512070.1:n.129+4512_129+4518del | |
| XM_011513769.1:c.249+11550_249+11556del | XP_011512071.1:n.249+11550_249+11556del | |
| XM_011513770.1:c.-148+7527_-148+7533del | XP_011512072.1:n.-148+7527_-148+7533del | |
| XM_011513771.1:c.-148+8756_-148+8762del | XP_011512073.1:n.-148+8756_-148+8762del | |
| NM_001330751.1:c.249+11550_249+11556del | NP_001317680.1:n.249+11550_249+11556del | |
| NM_001330752.1:c.198+11550_198+11556del | NP_001317681.1:n.198+11550_198+11556del | |
| NM_001330753.1:c.-148+7527_-148+7533del | NP_001317682.1:n.-148+7527_-148+7533del | |
| NM_001354825.1:c.249+11550_249+11556del | NP_001341754.1:n.249+11550_249+11556del | |
| NM_001354826.1:c.-148+11109_-148+11115del | NP_001341755.1:n.-148+11109_-148+11115del | |
| NM_001354827.1:c.249+11550_249+11556del | NP_001341756.1:n.249+11550_249+11556del | |
| NM_013261.4:c.234+11550_234+11556del | NP_037393.1:n.234+11550_234+11556del | |
| NR_148981.1:n.700+11550_700+11556del | ||
| NR_148982.1:n.803+11550_803+11556del | ||
| NR_148983.1:n.956+4512_956+4518del | ||
| NR_148984.1:n.354+11550_354+11556del | ||
| NR_148985.1:n.868+11550_868+11556del | ||
| NR_148986.1:n.700+11550_700+11556del | ||
| NR_148987.1:n.700+11550_700+11556del | ||
| XM_005248131.5:c.246+11550_246+11556del | XP_005248188.1:n.246+11550_246+11556del | |
| XM_005248134.4:c.249+11550_249+11556del | XP_005248191.1:n.249+11550_249+11556del | |
| XM_011513769.2:c.249+11550_249+11556del | XP_011512071.1:n.249+11550_249+11556del | |
| XM_024453878.1:c.249+11550_249+11556del | XP_024309646.1:n.249+11550_249+11556del | |
| NM_013261.5:c.234+11550_234+11556del MANE Select | NP_037393.1:n.234+11550_234+11556del | |
| NM_001330751.2:c.249+11550_249+11556del | NP_001317680.1:n.249+11550_249+11556del | |
| NM_001330752.2:c.198+11550_198+11556del | NP_001317681.1:n.198+11550_198+11556del | |
| NM_001354825.2:c.249+11550_249+11556del | NP_001341754.1:n.249+11550_249+11556del | |
| NM_001354826.2:c.-148+11109_-148+11115del | NP_001341755.1:n.-148+11109_-148+11115del | |
| NM_001354827.2:c.249+11550_249+11556del | NP_001341756.1:n.249+11550_249+11556del | |
| NR_148981.2:n.776+11550_776+11556del | ||
| NR_148982.2:n.879+11550_879+11556del | ||
| NR_148983.2:n.1032+4512_1032+4518del | ||
| NR_148984.2:n.324+11550_324+11556del | ||
| NR_148985.2:n.944+11550_944+11556del | ||
| NR_148986.2:n.776+11550_776+11556del | ||
| NR_148987.2:n.776+11550_776+11556del | ||
| NM_001330753.2:c.-148+7527_-148+7533del | NP_001317682.1:n.-148+7527_-148+7533del |