Canonical Allele Identifier: CA2695216879

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308748del , CM000674.2:g.53308748del	GRCh38
NC_000012.11:g.53702532del , CM000674.1:g.53702532del	GRCh37
NC_000012.10:g.51988799del	NCBI36
NG_016775.1:g.17883del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1066del MANE Select	ENSP00000209873.4:p.Leu356CysfsTer?
ENST00000546562.6:n.2130del
ENST00000547238.6:n.1702del
ENST00000547520.6:n.1060del
ENST00000547757.2:c.115del	ENSP00000448020.2:p.Leu39CysfsTer?
ENST00000548880.2:n.1516del
ENST00000548931.6:c.586del	ENSP00000457518.1:p.Leu196CysfsTer?
ENST00000549450.6:n.1000del
ENST00000552161.6:n.2022del
ENST00000672797.1:n.1555del
ENST00000672900.1:n.2008del
ENST00000209873.8:c.1066del	ENSP00000209873.4:p.Leu356CysfsTer?
ENST00000394384.7:c.967del	ENSP00000377908.3:p.Leu323CysfsTer?
ENST00000548931.5:c.586del	ENSP00000457518.1:p.Leu196CysfsTer?
ENST00000550033.5:n.321del
ENST00000550286.5:c.694del	ENSP00000446885.1:p.Leu232CysfsTer?
ENST00000552876.5:n.1409del
NM_001173466.1:c.967del	NP_001166937.1:p.Leu323CysfsTer?
NM_015665.5:c.1066del	NP_056480.1:p.Leu356CysfsTer?
XM_006719617.2:c.1081del	XP_006719680.1:p.Leu361CysfsTer?
XM_011538777.1:c.1081del	XP_011537079.1:p.Leu361CysfsTer?
XM_011538778.1:c.1066del	XP_011537080.1:p.Leu356CysfsTer?
XM_011538779.1:c.982del	XP_011537081.1:p.Leu328CysfsTer?
XM_011538780.1:c.967del	XP_011537082.1:p.Leu323CysfsTer?
XM_011538781.1:c.415del	XP_011537083.1:p.Leu139CysfsTer?
XM_011538778.2:c.1066del	XP_011537080.1:p.Leu356CysfsTer?
XM_011538780.2:c.967del	XP_011537082.1:p.Leu323CysfsTer?
XR_001748875.2:n.1123del
NM_015665.6:c.1066del MANE Select	NP_056480.1:p.Leu356CysfsTer?
NM_001173466.2:c.967del	NP_001166937.1:p.Leu323CysfsTer?