Canonical Allele Identifier: CA2619037040

Gene: AAAS

Linked Data

• gnomAD v4: 12-53307600-GCCTCCACCCCCAGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307601_53307614del , CM000674.2:g.53307601_53307614del	GRCh38
NC_000012.11:g.53701385_53701398del , CM000674.1:g.53701385_53701398del	GRCh37
NC_000012.10:g.51987652_51987665del	NCBI36
NG_016775.1:g.19015_19028del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1516_1529del MANE Select	ENSP00000209873.4:p.Ala506LeufsTer4
ENST00000546562.6:n.2580_2593del
ENST00000547238.6:n.2152_2165del
ENST00000547520.6:n.1632_1645del
ENST00000547757.2:c.*434_*447del	ENSP00000448020.2:n.*434_*447del
ENST00000548931.6:c.951_964del	ENSP00000457518.1:p.Leu318SerfsTer?
ENST00000549450.6:n.1450_1463del
ENST00000672797.1:n.2005_2018del
ENST00000209873.8:c.1516_1529del	ENSP00000209873.4:p.Ala506LeufsTer4
ENST00000394384.7:c.1417_1430del	ENSP00000377908.3:p.Ala473LeufsTer4
ENST00000548931.5:c.951_964del	ENSP00000457518.1:p.Leu318SerfsTer?
ENST00000550286.5:c.1144_1157del	ENSP00000446885.1:p.Ala382LeufsTer4
ENST00000552876.5:n.1859_1872del
NM_001173466.1:c.1417_1430del	NP_001166937.1:p.Ala473LeufsTer4
NM_015665.5:c.1516_1529del	NP_056480.1:p.Ala506LeufsTer4
XM_006719617.2:c.1531_1544del	XP_006719680.1:p.Ala511LeufsTer4
XM_011538777.1:c.1573_1586del	XP_011537079.1:p.Ala525LeufsTer4
XM_011538778.1:c.1558_1571del	XP_011537080.1:p.Ala520LeufsTer4
XM_011538779.1:c.1474_1487del	XP_011537081.1:p.Ala492LeufsTer4
XM_011538780.1:c.1459_1472del	XP_011537082.1:p.Ala487LeufsTer4
XM_011538781.1:c.907_920del	XP_011537083.1:p.Ala303LeufsTer4
XM_011538778.2:c.1558_1571del	XP_011537080.1:p.Ala520LeufsTer4
XM_011538780.2:c.1459_1472del	XP_011537082.1:p.Ala487LeufsTer4
XR_001748875.2:n.1573_1586del
NM_015665.6:c.1516_1529del MANE Select	NP_056480.1:p.Ala506LeufsTer4
NM_001173466.2:c.1417_1430del	NP_001166937.1:p.Ala473LeufsTer4