Canonical Allele Identifier: CA10646493

Gene: AIPL1

Linked Data

• ClinVar Variation Id: 324599
• ClinVar RCV Id: RCV000305856 ; RCV000341931 ; RCV000401270
• dbSNP Id: rs886053262
• gnomAD v4: 17-6425304-ATTG-A
• MyVariant Identifiers: chr17:g.6328625_6328627del (hg19) ; chr17:g.6425305_6425307del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425307_6425309del , CM000679.2:g.6425307_6425309del	GRCh38
NC_000017.10:g.6328627_6328629del , CM000679.1:g.6328627_6328629del	GRCh37
NC_000017.9:g.6269351_6269353del	NCBI36
NG_008474.1:g.14893_14895del

Transcript Alleles

HGVS	Amino-acid change
ENST00000381129.8:c.*153_*155del MANE Select	ENSP00000370521.3:n.*153_*155del
ENST00000250087.9:c.*153_*155del	ENSP00000250087.5:n.*153_*155del
ENST00000381128.2:c.*1180_*1182del	ENSP00000370520.2:n.*1180_*1182del
ENST00000381129.7:c.*153_*155del	ENSP00000370521.3:n.*153_*155del
ENST00000570584.5:c.251+8612_251+8614del
ENST00000574506.5:c.*153_*155del	ENSP00000458456.1:n.*153_*155del
ENST00000575265.5:c.*1279_*1281del	ENSP00000459673.1:n.*1279_*1281del
NM_001033054.2:c.*153_*155del	NP_001028226.1:n.*153_*155del
NM_001033055.2:c.*153_*155del	NP_001028227.1:n.*153_*155del
NM_001285399.2:c.*153_*155del	NP_001272328.1:n.*153_*155del
NM_001285400.2:c.*153_*155del	NP_001272329.1:n.*153_*155del
NM_001285401.2:c.*153_*155del	NP_001272330.1:n.*153_*155del
NM_001285402.1:c.*153_*155del	NP_001272331.1:n.*153_*155del
NM_014336.4:c.*153_*155del	NP_055151.3:n.*153_*155del
NM_001033054.3:c.*153_*155del	NP_001028226.1:n.*153_*155del
NM_001033055.3:c.*153_*155del	NP_001028227.1:n.*153_*155del
NM_001285399.3:c.*153_*155del	NP_001272328.1:n.*153_*155del
NM_001285400.3:c.*153_*155del	NP_001272329.1:n.*153_*155del
NM_001285401.3:c.*153_*155del	NP_001272330.1:n.*153_*155del
NM_001285402.2:c.*153_*155del	NP_001272331.1:n.*153_*155del
NM_001285403.3:c.*1279_*1281del	NP_001272332.1:n.*1279_*1281del
NM_014336.5:c.*153_*155del MANE Select	NP_055151.3:n.*153_*155del
NM_001285403.4:c.*1279_*1281del	NP_001272332.1:n.*1279_*1281del