Canonical Allele Identifier: CA2808334864
Gene: AIPL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6426527_6426528insCT , CM000679.2:g.6426527_6426528insCT GRCh38
NC_000017.10:g.6329847_6329848insCT , CM000679.1:g.6329847_6329848insCT GRCh37
NC_000017.9:g.6270571_6270572insCT NCBI36
NG_008474.1:g.13672_13673insAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000381129.8:c.784+87_784+88insAG MANE Select ENSP00000370521.3:n.784+87_784+88insAG
ENST00000250087.9:c.595+87_595+88insAG ENSP00000250087.5:n.595+87_595+88insAG
ENST00000381128.2:c.*656+87_*656+88insAG ENSP00000370520.2:n.*656+87_*656+88insAG
ENST00000381129.7:c.784+87_784+88insAG ENSP00000370521.3:n.784+87_784+88insAG
ENST00000570466.5:c.718+87_718+88insAG ENSP00000461287.1:n.718+87_718+88insAG
ENST00000570584.5:c.251+7391_251+7392insAG
ENST00000571740.5:c.*58_*59insAG ENSP00000460134.1:n.*58_*59insAG
ENST00000574506.5:c.748+87_748+88insAG ENSP00000458456.1:n.748+87_748+88insAG
ENST00000575265.5:c.*58_*59insAG ENSP00000459673.1:n.*58_*59insAG
ENST00000576307.5:c.604+87_604+88insAG ENSP00000459522.1:n.604+87_604+88insAG
ENST00000576776.5:c.712+87_712+88insAG ENSP00000460827.1:n.712+87_712+88insAG
ENST00000621374.4:c.784+87_784+88insAG ENSP00000481337.1:n.784+87_784+88insAG
NM_001033054.2:c.595+87_595+88insAG NP_001028226.1:n.595+87_595+88insAG
NM_001033055.2:c.604+87_604+88insAG NP_001028227.1:n.604+87_604+88insAG
NM_001285399.2:c.748+87_748+88insAG NP_001272328.1:n.748+87_748+88insAG
NM_001285400.2:c.718+87_718+88insAG NP_001272329.1:n.718+87_718+88insAG
NM_001285401.2:c.712+87_712+88insAG NP_001272330.1:n.712+87_712+88insAG
NM_001285402.1:c.667+87_667+88insAG NP_001272331.1:n.667+87_667+88insAG
NM_001285403.2:c.*58_*59insAG NP_001272332.1:n.*58_*59insAG
NM_014336.4:c.784+87_784+88insAG NP_055151.3:n.784+87_784+88insAG
NM_001033054.3:c.595+87_595+88insAG NP_001028226.1:n.595+87_595+88insAG
NM_001033055.3:c.604+87_604+88insAG NP_001028227.1:n.604+87_604+88insAG
NM_001285399.3:c.748+87_748+88insAG NP_001272328.1:n.748+87_748+88insAG
NM_001285400.3:c.718+87_718+88insAG NP_001272329.1:n.718+87_718+88insAG
NM_001285401.3:c.712+87_712+88insAG NP_001272330.1:n.712+87_712+88insAG
NM_001285402.2:c.667+87_667+88insAG NP_001272331.1:n.667+87_667+88insAG
NM_001285403.3:c.*58_*59insAG NP_001272332.1:n.*58_*59insAG
NM_014336.5:c.784+87_784+88insAG MANE Select NP_055151.3:n.784+87_784+88insAG
NM_001285403.4:c.*58_*59insAG NP_001272332.1:n.*58_*59insAG