Canonical Allele Identifier: CA913111776

Gene: PUS7

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.105481134_105481135del , CM000669.2:g.105481134_105481135del	GRCh38
NC_000007.13:g.105121581_105121582del , CM000669.1:g.105121581_105121582del	GRCh37
NC_000007.12:g.104908817_104908818del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_019042.5:c.1097_1098del MANE Select	NP_061915.2:p.Leu366GlnfsTer7
ENST00000469408.6:c.1097_1098del MANE Select	ENSP00000417402.1:p.Leu366GlnfsTer7
NM_001318163.1:c.1115_1116del	NP_001305092.1:p.Leu372GlnfsTer7
NM_001318164.1:c.1097_1098del	NP_001305093.1:p.Leu366GlnfsTer7
NM_001318164.2:c.1097_1098del	NP_001305093.1:p.Leu366GlnfsTer7
NM_019042.3:c.1097_1098del	NP_061915.2:p.Leu366GlnfsTer7
NM_019042.4:c.1097_1098del	NP_061915.2:p.Leu366GlnfsTer7
ENST00000356362.6:c.1097_1098del	ENSP00000348722.2:p.Leu366GlnfsTer7
ENST00000469408.5:c.1097_1098del	ENSP00000417402.1:p.Leu366GlnfsTer7
ENST00000481939.5:c.1097_1098del	ENSP00000418794.1:p.Leu366GlnfsTer7
XM_005250462.2:c.1115_1116del	XP_005250519.1:p.Leu372GlnfsTer7
XM_005250462.4:c.1115_1116del	XP_005250519.1:p.Leu372GlnfsTer7
XM_005250463.2:c.1097_1098del	XP_005250520.1:p.Leu366GlnfsTer7
XM_011516336.1:c.1115_1116del	XP_011514638.1:p.Leu372GlnfsTer7
XM_011516336.3:c.1115_1116del	XP_011514638.1:p.Leu372GlnfsTer7
XM_017012367.2:c.1115_1116del	XP_016867856.1:p.Leu372GlnfsTer7
XM_017012368.2:c.290_291del	XP_016867857.1:p.Leu97GlnfsTer7
XR_001744818.2:n.1338_1339del
XR_927481.1:n.1338_1339del
XR_927481.3:n.1338_1339del