Canonical Allele Identifier: CA2694407228

Gene: PRPS1

Linked Data

• gnomAD v4: X-107639225-CTATGGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.107639232_107639237del , CM000685.2:g.107639232_107639237del	GRCh38
NC_000023.10:g.106882462_106882467del , CM000685.1:g.106882462_106882467del	GRCh37
NC_000023.9:g.106769118_106769123del	NCBI36
NG_008407.1:g.15809_15814del , LRG_264:g.15809_15814del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372418.4:c.123-63_123-58del	ENSP00000361495.2:n.123-63_123-58del
ENST00000372435.10:c.123-63_123-58del MANE Select	ENSP00000361512.4:n.123-63_123-58del
ENST00000643795.2:c.123-63_123-58del	ENSP00000496286.1:n.123-63_123-58del
ENST00000644642.1:c.123-5945_123-5940del	ENSP00000495493.1:n.123-5945_123-5940del
ENST00000645638.1:c.*92-63_*92-58del	ENSP00000496554.1:n.*92-63_*92-58del
ENST00000645903.1:n.217-63_217-58del
ENST00000674525.1:n.208-63_208-58del
ENST00000674826.1:c.123-1670_123-1665del	ENSP00000502278.1:n.123-1670_123-1665del
ENST00000674843.1:c.225-63_225-58del	ENSP00000502260.1:n.225-63_225-58del
ENST00000675304.1:n.56-63_56-58del
ENST00000676092.1:c.123-63_123-58del	ENSP00000502780.1:n.123-63_123-58del
ENST00000372419.3:c.123-63_123-58del	ENSP00000361496.3:n.123-63_123-58del
ENST00000372428.8:c.-82-5945_-82-5940del	ENSP00000361505.5:n.-82-5945_-82-5940del
ENST00000372435.8:c.123-63_123-58del	ENSP00000361512.4:n.123-63_123-58del
NM_001204402.1:c.-82-5945_-82-5940del	NP_001191331.1:n.-82-5945_-82-5940del
NM_002764.3:c.123-63_123-58del , LRG_264t1:c.123-63_123-58del	NP_002755.1:n.123-63_123-58del
NM_002764.4:c.123-63_123-58del MANE Select	NP_002755.1:n.123-63_123-58del
NM_001204402.2:c.-82-5945_-82-5940del	NP_001191331.1:n.-82-5945_-82-5940del