Canonical Allele Identifier: CA933731050

Gene: PTPRE

Linked Data

• dbSNP Id: rs1846926488
• gnomAD v3: 10-127925377-GTATGTA-G
• gnomAD v4: 10-127925377-GTATGTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.127925379_127925384del , CM000672.2:g.127925379_127925384del	GRCh38
NC_000010.10:g.129723643_129723648del , CM000672.1:g.129723643_129723648del	GRCh37
NC_000010.9:g.129613633_129613638del	NCBI36
NG_029511.1:g.23319_23324del

Transcript Alleles

HGVS	Amino-acid change
ENST00000254667.8:c.-31+18070_-31+18075del MANE Select	ENSP00000254667.3:n.-31+18070_-31+18075de...
ENST00000254667.7:c.-31+18070_-31+18075del	ENSP00000254667.3:n.-31+18070_-31+18075de...
ENST00000442830.5:c.-202+18070_-202+18075del	ENSP00000410540.1:n.-202+18070_-202+18075...
NM_001316676.1:c.-169+18070_-169+18075del	NP_001303605.1:n.-169+18070_-169+18075del...
NM_006504.4:c.-31+18070_-31+18075del	NP_006495.1:n.-31+18070_-31+18075del
NM_006504.5:c.-31+18070_-31+18075del	NP_006495.1:n.-31+18070_-31+18075del
XM_011539993.1:c.53+18070_53+18075del	XP_011538295.1:n.53+18070_53+18075del
XM_011539994.1:c.53+18070_53+18075del	XP_011538296.1:n.53+18070_53+18075del
XM_011539995.1:c.53+18070_53+18075del	XP_011538297.1:n.53+18070_53+18075del
XM_011539996.1:c.53+18070_53+18075del	XP_011538298.1:n.53+18070_53+18075del
XM_011539998.1:c.53+18070_53+18075del	XP_011538300.1:n.53+18070_53+18075del
XR_945793.1:n.234+18070_234+18075del
NM_001323355.1:c.53+18070_53+18075del	NP_001310284.1:n.53+18070_53+18075del
NM_001323356.1:c.53+18070_53+18075del	NP_001310285.1:n.53+18070_53+18075del
XM_011539994.2:c.53+18070_53+18075del	XP_011538296.1:n.53+18070_53+18075del
XM_017016467.1:c.53+18070_53+18075del	XP_016871956.1:n.53+18070_53+18075del
XM_017016468.2:c.-31+18070_-31+18075del	XP_016871957.1:n.-31+18070_-31+18075del
XM_017016469.2:c.53+18070_53+18075del	XP_016871958.1:n.53+18070_53+18075del
XM_024448092.1:c.-93-5599_-93-5594del	XP_024303860.1:n.-93-5599_-93-5594del
XR_002956995.1:n.234+18070_234+18075del
NM_001316676.2:c.-169+18070_-169+18075del	NP_001303605.1:n.-169+18070_-169+18075del...
NM_001323355.2:c.53+18070_53+18075del	NP_001310284.1:n.53+18070_53+18075del
NM_001323356.2:c.53+18070_53+18075del	NP_001310285.1:n.53+18070_53+18075del
NM_006504.6:c.-31+18070_-31+18075del MANE Select	NP_006495.1:n.-31+18070_-31+18075del