Canonical Allele Identifier: CA2036910096

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308740_53308744delinsAAGAC , CM000674.2:g.53308740_53308744delinsAAGAC	GRCh38
NC_000012.11:g.53702524_53702528delinsAAGAC , CM000674.1:g.53702524_53702528delinsAAGAC	GRCh37
NC_000012.10:g.51988791_51988795delinsAAGAC	NCBI36
NG_016775.1:g.17885_17889delinsGTCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1068_1072delinsGTCTT MANE Select	ENSP00000209873.4:p.Leu356=
ENST00000546562.6:n.2132_2136delinsGTCTT
ENST00000547238.6:n.1704_1708delinsGTCTT
ENST00000547520.6:n.1062_1066delinsGTCTT
ENST00000547757.2:c.117_121delinsGTCTT	ENSP00000448020.2:p.Leu39=
ENST00000548880.2:n.1518_1522delinsGTCTT
ENST00000548931.6:c.588_592delinsGTCTT	ENSP00000457518.1:p.Leu196=
ENST00000549450.6:n.1002_1006delinsGTCTT
ENST00000552161.6:n.2024_2028delinsGTCTT
ENST00000672797.1:n.1557_1561delinsGTCTT
ENST00000672900.1:n.2010_2014delinsGTCTT
ENST00000209873.8:c.1068_1072delinsGTCTT	ENSP00000209873.4:p.Leu356=
ENST00000394384.7:c.969_973delinsGTCTT	ENSP00000377908.3:p.Leu323=
ENST00000548931.5:c.588_592delinsGTCTT	ENSP00000457518.1:p.Leu196=
ENST00000550033.5:n.323_327delinsGTCTT
ENST00000550286.5:c.696_700delinsGTCTT	ENSP00000446885.1:p.Leu232=
ENST00000552876.5:n.1411_1415delinsGTCTT
NM_001173466.1:c.969_973delinsGTCTT	NP_001166937.1:p.Leu323=
NM_015665.5:c.1068_1072delinsGTCTT	NP_056480.1:p.Leu356=
XM_006719617.2:c.1083_1087delinsGTCTT	XP_006719680.1:p.Leu361=
XM_011538777.1:c.1083_1087delinsGTCTT	XP_011537079.1:p.Leu361=
XM_011538778.1:c.1068_1072delinsGTCTT	XP_011537080.1:p.Leu356=
XM_011538779.1:c.984_988delinsGTCTT	XP_011537081.1:p.Leu328=
XM_011538780.1:c.969_973delinsGTCTT	XP_011537082.1:p.Leu323=
XM_011538781.1:c.417_421delinsGTCTT	XP_011537083.1:p.Leu139=
XM_011538778.2:c.1068_1072delinsGTCTT	XP_011537080.1:p.Leu356=
XM_011538780.2:c.969_973delinsGTCTT	XP_011537082.1:p.Leu323=
XR_001748875.2:n.1125_1129delinsGTCTT
NM_015665.6:c.1068_1072delinsGTCTT MANE Select	NP_056480.1:p.Leu356=
NM_001173466.2:c.969_973delinsGTCTT	NP_001166937.1:p.Leu323=