Canonical Allele Identifier: CA2808334104

Gene: AIPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425203_6425204del , CM000679.2:g.6425203_6425204del	GRCh38
NC_000017.10:g.6328523_6328524del , CM000679.1:g.6328523_6328524del	GRCh37
NC_000017.9:g.6269247_6269248del	NCBI36
NG_008474.1:g.14997_14998del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381129.8:c.*257_*258del MANE Select	ENSP00000370521.3:n.*257_*258del
ENST00000250087.9:c.*257_*258del	ENSP00000250087.5:n.*257_*258del
ENST00000381128.2:c.*1284_*1285del	ENSP00000370520.2:n.*1284_*1285del
ENST00000381129.7:c.*257_*258del	ENSP00000370521.3:n.*257_*258del
ENST00000570584.5:c.251+8716_251+8717del
ENST00000574506.5:c.*257_*258del	ENSP00000458456.1:n.*257_*258del
NM_001033054.2:c.*257_*258del	NP_001028226.1:n.*257_*258del
NM_001033055.2:c.*257_*258del	NP_001028227.1:n.*257_*258del
NM_001285399.2:c.*257_*258del	NP_001272328.1:n.*257_*258del
NM_001285400.2:c.*257_*258del	NP_001272329.1:n.*257_*258del
NM_001285401.2:c.*257_*258del	NP_001272330.1:n.*257_*258del
NM_001285402.1:c.*257_*258del	NP_001272331.1:n.*257_*258del
NM_014336.4:c.*257_*258del	NP_055151.3:n.*257_*258del
NM_001033054.3:c.*257_*258del	NP_001028226.1:n.*257_*258del
NM_001033055.3:c.*257_*258del	NP_001028227.1:n.*257_*258del
NM_001285399.3:c.*257_*258del	NP_001272328.1:n.*257_*258del
NM_001285400.3:c.*257_*258del	NP_001272329.1:n.*257_*258del
NM_001285401.3:c.*257_*258del	NP_001272330.1:n.*257_*258del
NM_001285402.2:c.*257_*258del	NP_001272331.1:n.*257_*258del
NM_014336.5:c.*257_*258del MANE Select	NP_055151.3:n.*257_*258del