Canonical Allele Identifier: CA2635688832
Gene: AIPL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6425504_6425599dup , CM000679.2:g.6425504_6425599dup GRCh38
NC_000017.10:g.6328824_6328919dup , CM000679.1:g.6328824_6328919dup GRCh37
NC_000017.9:g.6269548_6269643dup NCBI36
NG_008474.1:g.14615_14710dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000381129.8:c.1030_1125dup MANE Select ENSP00000370521.3:p.Pro375_Pro376insAlaGlnSerSerThrGluProProA...
ENST00000250087.9:c.841_936dup ENSP00000250087.5:p.Pro312_Pro313insAlaGlnSerSerThrGluProProA...
ENST00000381128.2:c.*902_*997dup ENSP00000370520.2:n.*902_*997dup
ENST00000381129.7:c.1030_1125dup ENSP00000370521.3:p.Pro375_Pro376insAlaGlnSerSerThrGluProProA...
ENST00000570466.5:c.964_1059dup ENSP00000461287.1:p.Pro353_Pro354insAlaGlnSerSerThrGluProProA...
ENST00000570584.5:c.251+8334_251+8429dup
ENST00000574506.5:c.994_1089dup ENSP00000458456.1:p.Pro363_Pro364insAlaGlnSerSerThrGluProProA...
ENST00000575265.5:c.*1001_*1096dup ENSP00000459673.1:n.*1001_*1096dup
ENST00000576307.5:c.850_945dup ENSP00000459522.1:p.Pro315_Pro316insAlaGlnSerSerThrGluProProA...
ENST00000576776.5:c.958_1053dup ENSP00000460827.1:p.Pro351_Pro352insAlaGlnSerSerThrGluProProA...
ENST00000621374.4:c.*48_*143dup ENSP00000481337.1:n.*48_*143dup
NM_001033054.2:c.841_936dup NP_001028226.1:p.Pro312_Pro313insAlaGlnSerSerThrGluProProAlaG...
NM_001033055.2:c.850_945dup NP_001028227.1:p.Pro315_Pro316insAlaGlnSerSerThrGluProProAlaG...
NM_001285399.2:c.994_1089dup NP_001272328.1:p.Pro363_Pro364insAlaGlnSerSerThrGluProProAlaG...
NM_001285400.2:c.964_1059dup NP_001272329.1:p.Pro353_Pro354insAlaGlnSerSerThrGluProProAlaG...
NM_001285401.2:c.958_1053dup NP_001272330.1:p.Pro351_Pro352insAlaGlnSerSerThrGluProProAlaG...
NM_001285402.1:c.913_1008dup NP_001272331.1:p.Pro336_Pro337insAlaGlnSerSerThrGluProProAlaG...
NM_014336.4:c.1030_1125dup NP_055151.3:p.Pro375_Pro376insAlaGlnSerSerThrGluProProAlaGluP...
NM_001033054.3:c.841_936dup NP_001028226.1:p.Pro312_Pro313insAlaGlnSerSerThrGluProProAlaG...
NM_001033055.3:c.850_945dup NP_001028227.1:p.Pro315_Pro316insAlaGlnSerSerThrGluProProAlaG...
NM_001285399.3:c.994_1089dup NP_001272328.1:p.Pro363_Pro364insAlaGlnSerSerThrGluProProAlaG...
NM_001285400.3:c.964_1059dup NP_001272329.1:p.Pro353_Pro354insAlaGlnSerSerThrGluProProAlaG...
NM_001285401.3:c.958_1053dup NP_001272330.1:p.Pro351_Pro352insAlaGlnSerSerThrGluProProAlaG...
NM_001285402.2:c.913_1008dup NP_001272331.1:p.Pro336_Pro337insAlaGlnSerSerThrGluProProAlaG...
NM_001285403.3:c.*1001_*1096dup NP_001272332.1:n.*1001_*1096dup
NM_014336.5:c.1030_1125dup MANE Select NP_055151.3:p.Pro375_Pro376insAlaGlnSerSerThrGluProProAlaGluP...
NM_001285403.4:c.*1001_*1096dup NP_001272332.1:n.*1001_*1096dup