Canonical Allele Identifier: CA947766823

Gene: AAAS

Linked Data

• dbSNP Id: rs1944342624
• gnomAD v3: 12-53308976-AGAG-A
• gnomAD v4: 12-53308976-AGAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308977_53308979del , CM000674.2:g.53308977_53308979del	GRCh38
NC_000012.11:g.53702761_53702763del , CM000674.1:g.53702761_53702763del	GRCh37
NC_000012.10:g.51989028_51989030del	NCBI36
NG_016775.1:g.17650_17652del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.977_979del MANE Select	ENSP00000209873.4:p.Thr326_Leu327delinsIle
ENST00000546393.7:n.1822_1824del
ENST00000546562.6:n.2041_2043del
ENST00000547238.6:n.1613_1615del
ENST00000547520.6:n.971_973del
ENST00000547757.2:c.26_28del	ENSP00000448020.2:p.Thr9_Leu10delinsIle
ENST00000548880.2:n.1427_1429del
ENST00000548931.6:c.497_499del	ENSP00000457518.1:p.Thr166_Leu167delinsIle
ENST00000549450.6:n.911_913del
ENST00000552161.6:n.1933_1935del
ENST00000672797.1:n.1430_1432del
ENST00000672900.1:n.1775_1777del
ENST00000209873.8:c.977_979del	ENSP00000209873.4:p.Thr326_Leu327delinsIle
ENST00000394384.7:c.878_880del	ENSP00000377908.3:p.Thr293_Leu294delinsIle
ENST00000546572.1:n.565_567del
ENST00000547520.5:n.681_683del
ENST00000548931.5:c.497_499del	ENSP00000457518.1:p.Thr166_Leu167delinsIle
ENST00000550033.5:n.232_234del
ENST00000550286.5:c.605_607del	ENSP00000446885.1:p.Thr202_Leu203delinsIle
ENST00000552876.5:n.1320_1322del
NM_001173466.1:c.878_880del	NP_001166937.1:p.Thr293_Leu294delinsIle
NM_015665.5:c.977_979del	NP_056480.1:p.Thr326_Leu327delinsIle
XM_006719617.2:c.992_994del	XP_006719680.1:p.Thr331_Leu332delinsIle
XM_006719619.2:c.992_994del	XP_006719682.1:p.Thr331_Leu332delinsIle
XM_011538777.1:c.992_994del	XP_011537079.1:p.Thr331_Leu332delinsIle
XM_011538778.1:c.977_979del	XP_011537080.1:p.Thr326_Leu327delinsIle
XM_011538779.1:c.893_895del	XP_011537081.1:p.Thr298_Leu299delinsIle
XM_011538780.1:c.878_880del	XP_011537082.1:p.Thr293_Leu294delinsIle
XM_011538781.1:c.326_328del	XP_011537083.1:p.Thr109_Leu110delinsIle
XM_011538778.2:c.977_979del	XP_011537080.1:p.Thr326_Leu327delinsIle
XM_011538780.2:c.878_880del	XP_011537082.1:p.Thr293_Leu294delinsIle
XR_001748875.2:n.998_1000del
NM_015665.6:c.977_979del MANE Select	NP_056480.1:p.Thr326_Leu327delinsIle
NM_001173466.2:c.878_880del	NP_001166937.1:p.Thr293_Leu294delinsIle