Canonical Allele Identifier: CA624662830

Gene: AIPL1

Linked Data

• dbSNP Id: rs1256687728
• gnomAD v2: 17-6328643-TTA-T
• gnomAD v3: 17-6425323-TTA-T
• gnomAD v4: 17-6425323-TTA-T
• MyVariant Identifiers: chr17:g.6328644_6328645del (hg19) ; chr17:g.6425324_6425325del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425324_6425325del , CM000679.2:g.6425324_6425325del	GRCh38
NC_000017.10:g.6328644_6328645del , CM000679.1:g.6328644_6328645del	GRCh37
NC_000017.9:g.6269368_6269369del	NCBI36
NG_008474.1:g.14875_14876del

Transcript Alleles

HGVS	Amino-acid change
ENST00000381129.8:c.*135_*136del MANE Select	ENSP00000370521.3:n.*135_*136del
ENST00000250087.9:c.*135_*136del	ENSP00000250087.5:n.*135_*136del
ENST00000381128.2:c.*1162_*1163del	ENSP00000370520.2:n.*1162_*1163del
ENST00000381129.7:c.*135_*136del	ENSP00000370521.3:n.*135_*136del
ENST00000570584.5:c.251+8594_251+8595del
ENST00000574506.5:c.*135_*136del	ENSP00000458456.1:n.*135_*136del
ENST00000575265.5:c.*1261_*1262del	ENSP00000459673.1:n.*1261_*1262del
NM_001033054.2:c.*135_*136del	NP_001028226.1:n.*135_*136del
NM_001033055.2:c.*135_*136del	NP_001028227.1:n.*135_*136del
NM_001285399.2:c.*135_*136del	NP_001272328.1:n.*135_*136del
NM_001285400.2:c.*135_*136del	NP_001272329.1:n.*135_*136del
NM_001285401.2:c.*135_*136del	NP_001272330.1:n.*135_*136del
NM_001285402.1:c.*135_*136del	NP_001272331.1:n.*135_*136del
NM_014336.4:c.*135_*136del	NP_055151.3:n.*135_*136del
NM_001033054.3:c.*135_*136del	NP_001028226.1:n.*135_*136del
NM_001033055.3:c.*135_*136del	NP_001028227.1:n.*135_*136del
NM_001285399.3:c.*135_*136del	NP_001272328.1:n.*135_*136del
NM_001285400.3:c.*135_*136del	NP_001272329.1:n.*135_*136del
NM_001285401.3:c.*135_*136del	NP_001272330.1:n.*135_*136del
NM_001285402.2:c.*135_*136del	NP_001272331.1:n.*135_*136del
NM_001285403.3:c.*1261_*1262del	NP_001272332.1:n.*1261_*1262del
NM_014336.5:c.*135_*136del MANE Select	NP_055151.3:n.*135_*136del
NM_001285403.4:c.*1261_*1262del	NP_001272332.1:n.*1261_*1262del