Canonical Allele Identifier: CA595440398

Gene: HPSE2

Linked Data

• dbSNP Id: rs1467349367
• gnomAD v2: 10-100300182-C-CTTTAGG
• gnomAD v3: 10-98540425-C-CTTTAGG
• gnomAD v4: 10-98540425-C-CTTTAGG
• MyVariant Identifiers: chr10:g.100300182_100300183insTTTAGG (hg19) ; chr10:g.98540425_98540426insTTTAGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.98540425_98540426insTTTAGG , CM000672.2:g.98540425_98540426insTTTAGG	GRCh38
NC_000010.10:g.100300182_100300183insTTTAGG , CM000672.1:g.100300182_100300183insTTTAGG	GRCh37
NC_000010.9:g.100290172_100290173insTTTAGG	NCBI36
NG_023416.1:g.700450_700451insCCTAAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000370552.8:c.1321-50230_1321-50229insCCTAAA MANE Select	ENSP00000359583.3:n.1321-50230_1321-50229...
ENST00000370546.5:c.1321-50230_1321-50229insCCTAAA	ENSP00000359577.1:n.1321-50230_1321-50229...
ENST00000370549.5:c.1147-50230_1147-50229insCCTAAA	ENSP00000359580.1:n.1147-50230_1147-50229...
ENST00000370552.7:c.1321-50230_1321-50229insCCTAAA	ENSP00000359583.3:n.1321-50230_1321-50229...
ENST00000404542.5:c.712-50230_712-50229insCCTAAA	ENSP00000384384.2:n.712-50230_712-50229in...
ENST00000628193.2:c.985-50230_985-50229insCCTAAA	ENSP00000485916.1:n.985-50230_985-50229in...
NM_001166244.1:c.1147-50230_1147-50229insCCTAAA	NP_001159716.1:n.1147-50230_1147-50229ins...
NM_001166245.1:c.985-50230_985-50229insCCTAAA	NP_001159717.1:n.985-50230_985-50229insCC...
NM_001166246.1:c.1321-50230_1321-50229insCCTAAA	NP_001159718.1:n.1321-50230_1321-50229ins...
NM_021828.4:c.1321-50230_1321-50229insCCTAAA	NP_068600.4:n.1321-50230_1321-50229insCCT...
XM_006717937.2:c.805-50230_805-50229insCCTAAA	XP_006718000.1:n.805-50230_805-50229insCC...
XM_011540029.1:c.1321-50230_1321-50229insCCTAAA	XP_011538331.1:n.1321-50230_1321-50229ins...
XM_011540030.1:c.1159-50230_1159-50229insCCTAAA	XP_011538332.1:n.1159-50230_1159-50229ins...
XM_011540031.1:c.805-50230_805-50229insCCTAAA	XP_011538333.1:n.805-50230_805-50229insCC...
XM_011540033.1:c.517-50230_517-50229insCCTAAA	XP_011538335.1:n.517-50230_517-50229insCC...
XR_945794.1:n.1394-50230_1394-50229insCCTAAA
XM_011540031.2:c.805-50230_805-50229insCCTAAA	XP_011538333.1:n.805-50230_805-50229insCC...
XM_017016495.1:c.1321-50230_1321-50229insCCTAAA	XP_016871984.1:n.1321-50230_1321-50229ins...
XM_017016497.1:c.805-50230_805-50229insCCTAAA	XP_016871986.1:n.805-50230_805-50229insCC...
XM_017016498.1:c.517-50230_517-50229insCCTAAA	XP_016871987.1:n.517-50230_517-50229insCC...
XM_024448119.1:c.805-50230_805-50229insCCTAAA	XP_024303887.1:n.805-50230_805-50229insCC...
XM_024448120.1:c.517-50230_517-50229insCCTAAA	XP_024303888.1:n.517-50230_517-50229insCC...
XR_001747170.1:n.1398-50230_1398-50229insCCTAAA
NM_021828.5:c.1321-50230_1321-50229insCCTAAA MANE Select	NP_068600.4:n.1321-50230_1321-50229insCCT...