Canonical Allele Identifier: CA1930937198

Gene: HPSE2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.98540184_98540192delinsTTGAATAAA , CM000672.2:g.98540184_98540192delinsTTGAATAAA	GRCh38
NC_000010.10:g.100299941_100299949delinsTTGAATAAA , CM000672.1:g.100299941_100299949delinsTTGAATAAA	GRCh37
NC_000010.9:g.100289931_100289939delinsTTGAATAAA	NCBI36
NG_023416.1:g.700684_700692delinsTTTATTCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370552.8:c.1321-49996_1321-49988delinsTTTATTCAA MANE Select	ENSP00000359583.3:n.1321-49996_1321-49988delinsTTTATTCAA
ENST00000370546.5:c.1321-49996_1321-49988delinsTTTATTCAA	ENSP00000359577.1:n.1321-49996_1321-49988delinsTTTATTCAA
ENST00000370549.5:c.1147-49996_1147-49988delinsTTTATTCAA	ENSP00000359580.1:n.1147-49996_1147-49988delinsTTTATTCAA
ENST00000370552.7:c.1321-49996_1321-49988delinsTTTATTCAA	ENSP00000359583.3:n.1321-49996_1321-49988delinsTTTATTCAA
ENST00000404542.5:c.712-49996_712-49988delinsTTTATTCAA	ENSP00000384384.2:n.712-49996_712-49988delinsTTTATTCAA
ENST00000628193.2:c.985-49996_985-49988delinsTTTATTCAA	ENSP00000485916.1:n.985-49996_985-49988delinsTTTATTCAA
NM_001166244.1:c.1147-49996_1147-49988delinsTTTATTCAA	NP_001159716.1:n.1147-49996_1147-49988delinsTTTATTCAA
NM_001166245.1:c.985-49996_985-49988delinsTTTATTCAA	NP_001159717.1:n.985-49996_985-49988delinsTTTATTCAA
NM_001166246.1:c.1321-49996_1321-49988delinsTTTATTCAA	NP_001159718.1:n.1321-49996_1321-49988delinsTTTATTCAA
NM_021828.4:c.1321-49996_1321-49988delinsTTTATTCAA	NP_068600.4:n.1321-49996_1321-49988delinsTTTATTCAA
XM_006717937.2:c.805-49996_805-49988delinsTTTATTCAA	XP_006718000.1:n.805-49996_805-49988delinsTTTATTCAA
XM_011540029.1:c.1321-49996_1321-49988delinsTTTATTCAA	XP_011538331.1:n.1321-49996_1321-49988delinsTTTATTCAA
XM_011540030.1:c.1159-49996_1159-49988delinsTTTATTCAA	XP_011538332.1:n.1159-49996_1159-49988delinsTTTATTCAA
XM_011540031.1:c.805-49996_805-49988delinsTTTATTCAA	XP_011538333.1:n.805-49996_805-49988delinsTTTATTCAA
XM_011540033.1:c.517-49996_517-49988delinsTTTATTCAA	XP_011538335.1:n.517-49996_517-49988delinsTTTATTCAA
XR_945794.1:n.1394-49996_1394-49988delinsTTTATTCAA
XM_011540031.2:c.805-49996_805-49988delinsTTTATTCAA	XP_011538333.1:n.805-49996_805-49988delinsTTTATTCAA
XM_017016495.1:c.1321-49996_1321-49988delinsTTTATTCAA	XP_016871984.1:n.1321-49996_1321-49988delinsTTTATTCAA
XM_017016497.1:c.805-49996_805-49988delinsTTTATTCAA	XP_016871986.1:n.805-49996_805-49988delinsTTTATTCAA
XM_017016498.1:c.517-49996_517-49988delinsTTTATTCAA	XP_016871987.1:n.517-49996_517-49988delinsTTTATTCAA
XM_024448119.1:c.805-49996_805-49988delinsTTTATTCAA	XP_024303887.1:n.805-49996_805-49988delinsTTTATTCAA
XM_024448120.1:c.517-49996_517-49988delinsTTTATTCAA	XP_024303888.1:n.517-49996_517-49988delinsTTTATTCAA
XR_001747170.1:n.1398-49996_1398-49988delinsTTTATTCAA
NM_021828.5:c.1321-49996_1321-49988delinsTTTATTCAA MANE Select	NP_068600.4:n.1321-49996_1321-49988delinsTTTATTCAA