Canonical Allele Identifier: CA624662809

Gene: AIPL1

Linked Data

• dbSNP Id: rs1332375523
• gnomAD v2: 17-6328624-A-ATTGTT
• gnomAD v3: 17-6425304-A-ATTGTT
• gnomAD v4: 17-6425304-A-ATTGTT
• MyVariant Identifiers: chr17:g.6328624_6328625insTTGTT (hg19) ; chr17:g.6425304_6425305insTTGTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425307_6425311dup , CM000679.2:g.6425307_6425311dup	GRCh38
NC_000017.10:g.6328627_6328631dup , CM000679.1:g.6328627_6328631dup	GRCh37
NC_000017.9:g.6269351_6269355dup	NCBI36
NG_008474.1:g.14891_14895dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000381129.8:c.*151_*155dup MANE Select	ENSP00000370521.3:n.*151_*155dup
ENST00000250087.9:c.*151_*155dup	ENSP00000250087.5:n.*151_*155dup
ENST00000381128.2:c.*1178_*1182dup	ENSP00000370520.2:n.*1178_*1182dup
ENST00000381129.7:c.*151_*155dup	ENSP00000370521.3:n.*151_*155dup
ENST00000570584.5:c.251+8610_251+8614dup
ENST00000574506.5:c.*151_*155dup	ENSP00000458456.1:n.*151_*155dup
NM_001033054.2:c.*151_*155dup	NP_001028226.1:n.*151_*155dup
NM_001033055.2:c.*151_*155dup	NP_001028227.1:n.*151_*155dup
NM_001285399.2:c.*151_*155dup	NP_001272328.1:n.*151_*155dup
NM_001285400.2:c.*151_*155dup	NP_001272329.1:n.*151_*155dup
NM_001285401.2:c.*151_*155dup	NP_001272330.1:n.*151_*155dup
NM_001285402.1:c.*151_*155dup	NP_001272331.1:n.*151_*155dup
NM_014336.4:c.*151_*155dup	NP_055151.3:n.*151_*155dup
NM_001033054.3:c.*151_*155dup	NP_001028226.1:n.*151_*155dup
NM_001033055.3:c.*151_*155dup	NP_001028227.1:n.*151_*155dup
NM_001285399.3:c.*151_*155dup	NP_001272328.1:n.*151_*155dup
NM_001285400.3:c.*151_*155dup	NP_001272329.1:n.*151_*155dup
NM_001285401.3:c.*151_*155dup	NP_001272330.1:n.*151_*155dup
NM_001285402.2:c.*151_*155dup	NP_001272331.1:n.*151_*155dup
NM_014336.5:c.*151_*155dup MANE Select	NP_055151.3:n.*151_*155dup
NM_001285403.4:c.*1277_*1281dup	NP_001272332.1:n.*1277_*1281dup