Canonical Allele Identifier: CA2635688520

Gene: AIPL1

Linked Data

• gnomAD v4: 17-6425089-AGGGGTATCAGGCATGAGAAAGGATCAGAGCATCAAATCCTCATTTGTCATTGACAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425096_6425151del , CM000679.2:g.6425096_6425151del	GRCh38
NC_000017.10:g.6328416_6328471del , CM000679.1:g.6328416_6328471del	GRCh37
NC_000017.9:g.6269140_6269195del	NCBI36
NG_008474.1:g.15055_15110del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.*315_*370del MANE Select	ENSP00000370521.3:n.*315_*370del
ENST00000250087.9:c.*315_*370del	ENSP00000250087.5:n.*315_*370del
ENST00000381128.2:c.*1342_*1397del	ENSP00000370520.2:n.*1342_*1397del
ENST00000381129.7:c.*315_*370del	ENSP00000370521.3:n.*315_*370del
ENST00000570584.5:c.251+8774_251+8829del
ENST00000574506.5:c.*315_*370del	ENSP00000458456.1:n.*315_*370del
NM_001033054.2:c.*315_*370del	NP_001028226.1:n.*315_*370del
NM_001033055.2:c.*315_*370del	NP_001028227.1:n.*315_*370del
NM_001285399.2:c.*315_*370del	NP_001272328.1:n.*315_*370del
NM_001285400.2:c.*315_*370del	NP_001272329.1:n.*315_*370del
NM_001285401.2:c.*315_*370del	NP_001272330.1:n.*315_*370del
NM_001285402.1:c.*315_*370del	NP_001272331.1:n.*315_*370del
NM_014336.4:c.*315_*370del	NP_055151.3:n.*315_*370del
NM_001033054.3:c.*315_*370del	NP_001028226.1:n.*315_*370del
NM_001033055.3:c.*315_*370del	NP_001028227.1:n.*315_*370del
NM_001285399.3:c.*315_*370del	NP_001272328.1:n.*315_*370del
NM_001285400.3:c.*315_*370del	NP_001272329.1:n.*315_*370del
NM_001285401.3:c.*315_*370del	NP_001272330.1:n.*315_*370del
NM_001285402.2:c.*315_*370del	NP_001272331.1:n.*315_*370del
NM_014336.5:c.*315_*370del MANE Select	NP_055151.3:n.*315_*370del