Canonical Allele Identifier: CA2651818313

Gene: PROKR2

Linked Data

• gnomAD v4: 20-5314252-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.5314254_5314255del , CM000682.2:g.5314254_5314255del	GRCh38
NC_000020.10:g.5294900_5294901del , CM000682.1:g.5294900_5294901del	GRCh37
NC_000020.9:g.5242900_5242901del	NCBI36
NG_008132.1:g.5116_5117del
NG_008132.2:g.5116_5117del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217270.4:c.116_117del	ENSP00000217270.3:p.Glu39GlyfsTer2
ENST00000678059.1:c.8_9del	ENSP00000503366.1:p.Glu3GlyfsTer2
ENST00000678254.1:c.116_117del MANE Select	ENSP00000504128.1:p.Glu39GlyfsTer2
ENST00000217270.3:c.116_117del	ENSP00000217270.3:p.Glu39GlyfsTer2
NM_144773.2:c.116_117del	NP_658986.1:p.Glu39GlyfsTer2
XM_005260663.2:c.116_117del	XP_005260720.1:p.Glu39GlyfsTer2
XM_011529159.1:c.8_9del	XP_011527461.1:p.Glu3GlyfsTer2
NM_144773.3:c.116_117del	NP_658986.1:p.Glu39GlyfsTer2
XM_017027646.1:c.116_117del	XP_016883135.1:p.Glu39GlyfsTer2
NM_144773.4:c.116_117del MANE Select	NP_658986.1:p.Glu39GlyfsTer2