Canonical Allele Identifier: CA2036909475

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307478_53307482delinsCTTAT , CM000674.2:g.53307478_53307482delinsCTTAT	GRCh38
NC_000012.11:g.53701262_53701266delinsCTTAT , CM000674.1:g.53701262_53701266delinsCTTAT	GRCh37
NC_000012.10:g.51987529_51987533delinsCTTAT	NCBI36
NG_016775.1:g.19147_19151delinsATAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.*7_*11delinsATAAG MANE Select	ENSP00000209873.4:n.*7_*11delinsATAAG
ENST00000547757.2:c.*566_*570delinsATAAG	ENSP00000448020.2:n.*566_*570delinsATAAG
ENST00000548931.6:c.1083_1087delinsATAAG	ENSP00000457518.1:n.1083_1087delinsATAAG
ENST00000549450.6:n.1582_1586delinsATAAG
ENST00000209873.8:c.*7_*11delinsATAAG	ENSP00000209873.4:n.*7_*11delinsATAAG
ENST00000394384.7:c.*7_*11delinsATAAG	ENSP00000377908.3:n.*7_*11delinsATAAG
ENST00000550286.5:c.*7_*11delinsATAAG	ENSP00000446885.1:n.*7_*11delinsATAAG
ENST00000552876.5:n.1991_1995delinsATAAG
NM_001173466.1:c.*7_*11delinsATAAG	NP_001166937.1:n.*7_*11delinsATAAG
NM_015665.5:c.*7_*11delinsATAAG	NP_056480.1:n.*7_*11delinsATAAG
XM_006719617.2:c.*7_*11delinsATAAG	XP_006719680.1:n.*7_*11delinsATAAG
XM_011538777.1:c.*7_*11delinsATAAG	XP_011537079.1:n.*7_*11delinsATAAG
XM_011538778.1:c.*7_*11delinsATAAG	XP_011537080.1:n.*7_*11delinsATAAG
XM_011538779.1:c.*7_*11delinsATAAG	XP_011537081.1:n.*7_*11delinsATAAG
XM_011538780.1:c.*7_*11delinsATAAG	XP_011537082.1:n.*7_*11delinsATAAG
XM_011538781.1:c.*7_*11delinsATAAG	XP_011537083.1:n.*7_*11delinsATAAG
XM_011538778.2:c.*7_*11delinsATAAG	XP_011537080.1:n.*7_*11delinsATAAG
XM_011538780.2:c.*7_*11delinsATAAG	XP_011537082.1:n.*7_*11delinsATAAG
NM_015665.6:c.*7_*11delinsATAAG MANE Select	NP_056480.1:n.*7_*11delinsATAAG
NM_001173466.2:c.*7_*11delinsATAAG	NP_001166937.1:n.*7_*11delinsATAAG