Canonical Allele Identifier: CA658822752

Gene: PUS3 HYLS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.125900219_125900227del , CM000673.2:g.125900219_125900227del	GRCh38
NC_000011.9:g.125770114_125770122del , CM000673.1:g.125770114_125770122del	GRCh37
NC_000011.8:g.125275324_125275332del	NCBI36
NG_011842.1:g.21606_21614del
NG_033067.1:g.7997_8005del

Transcript Alleles

HGVS	Amino-acid Change
NM_001134793.2:c.851_859del (HYLS1) MANE Select	NP_001128265.1:p.Ala284_Gly286del
NM_031307.4:c.-47+2945_-47+2953del (PUS3) MANE Select	NP_112597.4:n.-47+2945_-47+2953del
ENST00000227474.8:c.-47+2945_-47+2953del (PUS3) MANE Select	ENSP00000227474.3:n.-47+2945_-47+2953del
ENST00000425380.7:c.851_859del (HYLS1) MANE Select	ENSP00000414884.2:p.Ala284_Gly286del
NM_001134793.1:c.851_859del (HYLS1)	NP_001128265.1:p.Ala284_Gly286del
NM_001271985.1:c.-247+2945_-247+2953del (PUS3)	NP_001258914.1:n.-247+2945_-247+2953del
NM_001271985.2:c.-247+2945_-247+2953del (PUS3)	NP_001258914.1:n.-247+2945_-247+2953del
NM_001377269.1:c.851_859del (HYLS1)	NP_001364198.1:p.Ala284_Gly286del
NM_001377270.1:c.851_859del (HYLS1)	NP_001364199.1:p.Ala284_Gly286del
NM_031307.3:c.-47+2945_-47+2953del (PUS3)	NP_112597.3:n.-47+2945_-47+2953del
NM_145014.2:c.851_859del (HYLS1)	NP_659451.1:p.Ala284_Gly286del
NM_145014.3:c.851_859del (HYLS1)	NP_659451.1:p.Ala284_Gly286del
ENST00000227474.7:c.-47+2945_-47+2953del (PUS3)	ENSP00000227474.3:n.-47+2945_-47+2953del
ENST00000356438.7:c.851_859del (HYLS1)	ENSP00000348815.3:p.Ala284_Gly286del
ENST00000425380.6:c.851_859del (HYLS1)	ENSP00000414884.2:p.Ala284_Gly286del
ENST00000526028.1:c.851_859del (HYLS1)	ENSP00000436833.1:p.Ala284_Gly286del
ENST00000529801.1:c.-47+454_-47+462del (PUS3)	ENSP00000437077.1:n.-47+454_-47+462del
ENST00000534158.5:c.-47+2945_-47+2953del (PUS3)	ENSP00000432272.1:n.-47+2945_-47+2953del
ENST00000613398.4:c.-247+2945_-247+2953del (PUS3)	ENSP00000481536.1:n.-247+2945_-247+2953del
XM_005271430.2:c.851_859del (HYLS1)	XP_005271487.1:p.Ala284_Gly286del
XM_005271687.2:c.81+2945_81+2953del (PUS3)	XP_005271744.1:n.81+2945_81+2953del
XM_005271688.2:c.-47+2945_-47+2953del (PUS3)	XP_005271745.1:n.-47+2945_-47+2953del
XM_005271688.4:c.-47+2945_-47+2953del (PUS3)	XP_005271745.1:n.-47+2945_-47+2953del
XM_006718777.2:c.851_859del (HYLS1)	XP_006718840.1:p.Ala284_Gly286del
XM_006718777.3:c.851_859del (HYLS1)	XP_006718840.1:p.Ala284_Gly286del
XM_006718778.2:c.851_859del (HYLS1)	XP_006718841.1:p.Ala284_Gly286del
XM_011542657.1:c.851_859del (HYLS1)	XP_011540959.1:p.Ala284_Gly286del
XM_011542658.1:c.851_859del (HYLS1)	XP_011540960.1:p.Ala284_Gly286del
XM_011542659.1:c.851_859del (HYLS1)	XP_011540961.1:p.Ala284_Gly286del
XM_011542659.2:c.851_859del (HYLS1)	XP_011540961.1:p.Ala284_Gly286del
XM_017017320.1:c.851_859del (HYLS1)	XP_016872809.1:p.Ala284_Gly286del
XM_017017321.1:c.851_859del (HYLS1)	XP_016872810.1:p.Ala284_Gly286del
XM_024448706.1:c.81+2945_81+2953del (PUS3)	XP_024304474.1:n.81+2945_81+2953del