Linked Data
dbSNP Id:
rs1299377463
gnomAD v2:
4-23874836-A-AAG
gnomAD v3:
4-23873213-A-AAG
gnomAD v4:
4-23873213-A-AAG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.23873214_23873215insGA , CM000666.2:g.23873214_23873215insGA | GRCh38 |
| NC_000004.11:g.23874837_23874838insGA , CM000666.1:g.23874837_23874838insGA | GRCh37 |
| NC_000004.10:g.23483935_23483936insGA | NCBI36 |
| NG_028250.1:g.21864_21865insCT | |
| NG_028250.2:g.604762_604763insCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264867.7:c.234+11538_234+11539insCT MANE Select | ENSP00000264867.2:n.234+11538_234+11539insCT | |
| ENST00000264867.6:c.234+11538_234+11539insCT | ENSP00000264867.2:n.234+11538_234+11539insCT | |
| ENST00000506055.5:c.234+11538_234+11539insCT | ENSP00000423075.1:n.234+11538_234+11539insCT | |
| ENST00000507342.5:n.314+11538_314+11539insCT | ||
| ENST00000508380.1:n.154+8744_154+8745insCT | ||
| ENST00000509642.5:n.327+4500_327+4501insCT | ||
| ENST00000509702.5:n.191+8707_191+8708insCT | ||
| ENST00000512169.1:n.327+4500_327+4501insCT | ||
| ENST00000513205.5:c.234+11538_234+11539insCT | ENSP00000421632.1:n.234+11538_234+11539insCT | |
| ENST00000515534.5:n.307-6968_307-6967insCT | ||
| ENST00000612355.1:c.222+11538_222+11539insCT | ENSP00000479729.1:n.222+11538_222+11539insCT | |
| ENST00000613098.4:c.-148+7515_-148+7516insCT | ENSP00000481498.1:n.-148+7515_-148+7516insCT | |
| ENST00000617484.4:c.222+11538_222+11539insCT | ENSP00000477921.1:n.222+11538_222+11539insCT | |
| NM_013261.3:c.234+11538_234+11539insCT | NP_037393.1:n.234+11538_234+11539insCT | |
| XM_005248130.2:c.249+11538_249+11539insCT | XP_005248187.1:n.249+11538_249+11539insCT | |
| XM_005248131.3:c.246+11538_246+11539insCT | XP_005248188.1:n.246+11538_246+11539insCT | |
| XM_005248132.1:c.225+11538_225+11539insCT | XP_005248189.1:n.225+11538_225+11539insCT | |
| XM_005248134.3:c.249+11538_249+11539insCT | XP_005248191.1:n.249+11538_249+11539insCT | |
| XM_011513764.1:c.234+11538_234+11539insCT | XP_011512066.1:n.234+11538_234+11539insCT | |
| XM_011513765.1:c.198+11538_198+11539insCT | XP_011512067.1:n.198+11538_198+11539insCT | |
| XM_011513766.1:c.129+4500_129+4501insCT | XP_011512068.1:n.129+4500_129+4501insCT | |
| XM_011513767.1:c.129+4500_129+4501insCT | XP_011512069.1:n.129+4500_129+4501insCT | |
| XM_011513768.1:c.129+4500_129+4501insCT | XP_011512070.1:n.129+4500_129+4501insCT | |
| XM_011513769.1:c.249+11538_249+11539insCT | XP_011512071.1:n.249+11538_249+11539insCT | |
| XM_011513770.1:c.-148+7515_-148+7516insCT | XP_011512072.1:n.-148+7515_-148+7516insCT | |
| XM_011513771.1:c.-148+8744_-148+8745insCT | XP_011512073.1:n.-148+8744_-148+8745insCT | |
| NM_001330751.1:c.249+11538_249+11539insCT | NP_001317680.1:n.249+11538_249+11539insCT | |
| NM_001330752.1:c.198+11538_198+11539insCT | NP_001317681.1:n.198+11538_198+11539insCT | |
| NM_001330753.1:c.-148+7515_-148+7516insCT | NP_001317682.1:n.-148+7515_-148+7516insCT | |
| NM_001354825.1:c.249+11538_249+11539insCT | NP_001341754.1:n.249+11538_249+11539insCT | |
| NM_001354826.1:c.-148+11097_-148+11098insCT | NP_001341755.1:n.-148+11097_-148+11098insCT | |
| NM_001354827.1:c.249+11538_249+11539insCT | NP_001341756.1:n.249+11538_249+11539insCT | |
| NM_013261.4:c.234+11538_234+11539insCT | NP_037393.1:n.234+11538_234+11539insCT | |
| NR_148981.1:n.700+11538_700+11539insCT | ||
| NR_148982.1:n.803+11538_803+11539insCT | ||
| NR_148983.1:n.956+4500_956+4501insCT | ||
| NR_148984.1:n.354+11538_354+11539insCT | ||
| NR_148985.1:n.868+11538_868+11539insCT | ||
| NR_148986.1:n.700+11538_700+11539insCT | ||
| NR_148987.1:n.700+11538_700+11539insCT | ||
| XM_005248131.5:c.246+11538_246+11539insCT | XP_005248188.1:n.246+11538_246+11539insCT | |
| XM_005248134.4:c.249+11538_249+11539insCT | XP_005248191.1:n.249+11538_249+11539insCT | |
| XM_011513769.2:c.249+11538_249+11539insCT | XP_011512071.1:n.249+11538_249+11539insCT | |
| XM_024453878.1:c.249+11538_249+11539insCT | XP_024309646.1:n.249+11538_249+11539insCT | |
| NM_013261.5:c.234+11538_234+11539insCT MANE Select | NP_037393.1:n.234+11538_234+11539insCT | |
| NM_001330751.2:c.249+11538_249+11539insCT | NP_001317680.1:n.249+11538_249+11539insCT | |
| NM_001330752.2:c.198+11538_198+11539insCT | NP_001317681.1:n.198+11538_198+11539insCT | |
| NM_001354825.2:c.249+11538_249+11539insCT | NP_001341754.1:n.249+11538_249+11539insCT | |
| NM_001354826.2:c.-148+11097_-148+11098insCT | NP_001341755.1:n.-148+11097_-148+11098insCT | |
| NM_001354827.2:c.249+11538_249+11539insCT | NP_001341756.1:n.249+11538_249+11539insCT | |
| NR_148981.2:n.776+11538_776+11539insCT | ||
| NR_148982.2:n.879+11538_879+11539insCT | ||
| NR_148983.2:n.1032+4500_1032+4501insCT | ||
| NR_148984.2:n.324+11538_324+11539insCT | ||
| NR_148985.2:n.944+11538_944+11539insCT | ||
| NR_148986.2:n.776+11538_776+11539insCT | ||
| NR_148987.2:n.776+11538_776+11539insCT | ||
| NM_001330753.2:c.-148+7515_-148+7516insCT | NP_001317682.1:n.-148+7515_-148+7516insCT |