Canonical Allele Identifier: CA2573156370

Gene: PRX

Linked Data

• ClinVar Variation Id: 1470929
• ClinVar RCV Id: RCV001995338
• dbSNP Id: rs2145728948

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40396158_40396343dup , CM000681.2:g.40396158_40396343dup	GRCh38
NC_000019.9:g.40902065_40902250dup , CM000681.1:g.40902065_40902250dup	GRCh37
NC_000019.8:g.45593905_45594090dup	NCBI36
NG_007979.1:g.22041_22226dup , LRG_265:g.22041_22226dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000324001.8:c.2028_2213dup MANE Select	ENSP00000326018.6:p.Pro738_Asp739insGluVa...
ENST00000673881.1:c.1611_1796dup	ENSP00000501070.1:p.Pro599_Asp600insGluVa...
ENST00000674005.2:c.2313_2498dup	ENSP00000501261.1:p.Pro833_Asp834insGluVa...
ENST00000674773.1:c.1611_1796dup	ENSP00000502579.1:p.Pro599_Asp600insGluVa...
ENST00000675517.1:c.1903_2088dup
ENST00000676076.1:c.1889_2074dup
ENST00000676260.1:c.1990_2175dup
ENST00000676316.1:c.1915_2100dup
ENST00000291825.11:c.*2233_*2418dup	ENSP00000291825.6:n.*2233_*2418dup
ENST00000324001.7:c.2028_2213dup	ENSP00000326018.6:p.Pro738_Asp739insGluVa...
NM_020956.2:c.*2233_*2418dup , LRG_265t1:c.*2233_*2418dup	NP_066007.1:n.*2233_*2418dup
NM_181882.2:c.2028_2213dup , LRG_265t2:c.2028_2213dup	NP_870998.2:p.Pro738_Asp739insGluValArgLe...
XM_011527171.1:c.2028_2213dup	XP_011525473.1:p.Pro738_Asp739insGluValAr...
XM_011527171.2:c.2028_2213dup	XP_011525473.1:p.Pro738_Asp739insGluValAr...
XM_017027046.1:c.1926_2111dup	XP_016882535.1:p.Pro704_Asp705insGluValAr...
XM_017027047.1:c.1926_2111dup	XP_016882536.1:p.Pro704_Asp705insGluValAr...
NM_181882.3:c.2028_2213dup MANE Select	NP_870998.2:p.Pro738_Asp739insGluValArgLe...