Canonical Allele Identifier: CA2651818312

Gene: PROKR2

Linked Data

• gnomAD v4: 20-5314228-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.5314230del , CM000682.2:g.5314230del	GRCh38
NC_000020.10:g.5294876del , CM000682.1:g.5294876del	GRCh37
NC_000020.9:g.5242876del	NCBI36
NG_008132.1:g.5141del
NG_008132.2:g.5141del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217270.4:c.141del	ENSP00000217270.3:p.Thr48ProfsTer?
ENST00000678059.1:c.33del	ENSP00000503366.1:p.Thr12ProfsTer?
ENST00000678254.1:c.141del MANE Select	ENSP00000504128.1:p.Thr48ProfsTer?
ENST00000217270.3:c.141del	ENSP00000217270.3:p.Thr48ProfsTer?
NM_144773.2:c.141del	NP_658986.1:p.Thr48ProfsTer?
XM_005260663.2:c.141del	XP_005260720.1:p.Thr48ProfsTer?
XM_011529159.1:c.33del	XP_011527461.1:p.Thr12ProfsTer?
NM_144773.3:c.141del	NP_658986.1:p.Thr48ProfsTer?
XM_017027646.1:c.141del	XP_016883135.1:p.Thr48ProfsTer?
NM_144773.4:c.141del MANE Select	NP_658986.1:p.Thr48ProfsTer?