Canonical Allele Identifier: CA397394151

Gene: AIPL1

Linked Data

• dbSNP Id: rs77115868
• gnomAD v3: 17-6425307-G-GTTT
• gnomAD v4: 17-6425307-G-GTTT
• MyVariant Identifiers: chr17:g.6328630_6328631insTTT (hg19) ; chr17:g.6328627_6328628insTTT (hg19) ; chr17:g.6425310_6425311insTTT (hg38) ; chr17:g.6425307_6425308insTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425322_6425324dup , CM000679.2:g.6425322_6425324dup	GRCh38
NC_000017.10:g.6328642_6328644dup , CM000679.1:g.6328642_6328644dup	GRCh37
NC_000017.9:g.6269366_6269368dup	NCBI36
NG_008474.1:g.14890_14892dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000381129.8:c.*150_*152dup MANE Select	ENSP00000370521.3:n.*150_*152dup
ENST00000250087.9:c.*150_*152dup	ENSP00000250087.5:n.*150_*152dup
ENST00000381128.2:c.*1177_*1179dup	ENSP00000370520.2:n.*1177_*1179dup
ENST00000381129.7:c.*150_*152dup	ENSP00000370521.3:n.*150_*152dup
ENST00000570584.5:c.251+8609_251+8611dup
ENST00000574506.5:c.*150_*152dup	ENSP00000458456.1:n.*150_*152dup
ENST00000575265.5:c.*1276_*1278dup	ENSP00000459673.1:n.*1276_*1278dup
NM_001033054.2:c.*150_*152dup	NP_001028226.1:n.*150_*152dup
NM_001033055.2:c.*150_*152dup	NP_001028227.1:n.*150_*152dup
NM_001285399.2:c.*150_*152dup	NP_001272328.1:n.*150_*152dup
NM_001285400.2:c.*150_*152dup	NP_001272329.1:n.*150_*152dup
NM_001285401.2:c.*150_*152dup	NP_001272330.1:n.*150_*152dup
NM_001285402.1:c.*150_*152dup	NP_001272331.1:n.*150_*152dup
NM_014336.4:c.*150_*152dup	NP_055151.3:n.*150_*152dup
NM_001033054.3:c.*150_*152dup	NP_001028226.1:n.*150_*152dup
NM_001033055.3:c.*150_*152dup	NP_001028227.1:n.*150_*152dup
NM_001285399.3:c.*150_*152dup	NP_001272328.1:n.*150_*152dup
NM_001285400.3:c.*150_*152dup	NP_001272329.1:n.*150_*152dup
NM_001285401.3:c.*150_*152dup	NP_001272330.1:n.*150_*152dup
NM_001285402.2:c.*150_*152dup	NP_001272331.1:n.*150_*152dup
NM_001285403.3:c.*1276_*1278dup	NP_001272332.1:n.*1276_*1278dup
NM_014336.5:c.*150_*152dup MANE Select	NP_055151.3:n.*150_*152dup
NM_001285403.4:c.*1276_*1278dup	NP_001272332.1:n.*1276_*1278dup