Canonical Allele Identifier: CA2695221131

Gene: ALPK3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.84840282_84840285del , CM000677.2:g.84840282_84840285del	GRCh38
NC_000015.9:g.85383513_85383516del , CM000677.1:g.85383513_85383516del	GRCh37
NC_000015.8:g.83184517_83184520del	NCBI36
NG_054748.1:g.28652_28655del

Transcript Alleles

HGVS	Amino-acid change
ENST00000258888.6:c.1003_1006del MANE Select	ENSP00000258888.6:p.Ala335ProfsTer?
ENST00000258888.5:c.1609_1612del	ENSP00000258888.5:p.Ala537ProfsTer?
NM_020778.4:c.1609_1612del	NP_065829.3:p.Ala537ProfsTer?
NM_020778.5:c.1003_1006del MANE Select	NP_065829.4:p.Ala335ProfsTer?