Canonical Allele Identifier: CA1930937305

Gene: HPSE2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.98540410_98540411delinsGC , CM000672.2:g.98540410_98540411delinsGC	GRCh38
NC_000010.10:g.100300167_100300168delinsGC , CM000672.1:g.100300167_100300168delinsGC	GRCh37
NC_000010.9:g.100290157_100290158delinsGC	NCBI36
NG_023416.1:g.700465_700466delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370552.8:c.1321-50215_1321-50214delinsGC MANE Select	ENSP00000359583.3:n.1321-50215_1321-50214delinsGC
ENST00000370546.5:c.1321-50215_1321-50214delinsGC	ENSP00000359577.1:n.1321-50215_1321-50214delinsGC
ENST00000370549.5:c.1147-50215_1147-50214delinsGC	ENSP00000359580.1:n.1147-50215_1147-50214delinsGC
ENST00000370552.7:c.1321-50215_1321-50214delinsGC	ENSP00000359583.3:n.1321-50215_1321-50214delinsGC
ENST00000404542.5:c.712-50215_712-50214delinsGC	ENSP00000384384.2:n.712-50215_712-50214delinsGC
ENST00000628193.2:c.985-50215_985-50214delinsGC	ENSP00000485916.1:n.985-50215_985-50214delinsGC
NM_001166244.1:c.1147-50215_1147-50214delinsGC	NP_001159716.1:n.1147-50215_1147-50214delinsGC
NM_001166245.1:c.985-50215_985-50214delinsGC	NP_001159717.1:n.985-50215_985-50214delinsGC
NM_001166246.1:c.1321-50215_1321-50214delinsGC	NP_001159718.1:n.1321-50215_1321-50214delinsGC
NM_021828.4:c.1321-50215_1321-50214delinsGC	NP_068600.4:n.1321-50215_1321-50214delinsGC
XM_006717937.2:c.805-50215_805-50214delinsGC	XP_006718000.1:n.805-50215_805-50214delinsGC
XM_011540029.1:c.1321-50215_1321-50214delinsGC	XP_011538331.1:n.1321-50215_1321-50214delinsGC
XM_011540030.1:c.1159-50215_1159-50214delinsGC	XP_011538332.1:n.1159-50215_1159-50214delinsGC
XM_011540031.1:c.805-50215_805-50214delinsGC	XP_011538333.1:n.805-50215_805-50214delinsGC
XM_011540033.1:c.517-50215_517-50214delinsGC	XP_011538335.1:n.517-50215_517-50214delinsGC
XR_945794.1:n.1394-50215_1394-50214delinsGC
XM_011540031.2:c.805-50215_805-50214delinsGC	XP_011538333.1:n.805-50215_805-50214delinsGC
XM_017016495.1:c.1321-50215_1321-50214delinsGC	XP_016871984.1:n.1321-50215_1321-50214delinsGC
XM_017016497.1:c.805-50215_805-50214delinsGC	XP_016871986.1:n.805-50215_805-50214delinsGC
XM_017016498.1:c.517-50215_517-50214delinsGC	XP_016871987.1:n.517-50215_517-50214delinsGC
XM_024448119.1:c.805-50215_805-50214delinsGC	XP_024303887.1:n.805-50215_805-50214delinsGC
XM_024448120.1:c.517-50215_517-50214delinsGC	XP_024303888.1:n.517-50215_517-50214delinsGC
XR_001747170.1:n.1398-50215_1398-50214delinsGC
NM_021828.5:c.1321-50215_1321-50214delinsGC MANE Select	NP_068600.4:n.1321-50215_1321-50214delinsGC