Canonical Allele Identifier: CA3000266853
Community Standard Title: NM_000294.3(PHKG2):c.96-22_96-21del
Gene: PHKG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30751084_30751085del , CM000678.2:g.30751084_30751085del GRCh38
NC_000016.9:g.30762405_30762406del , CM000678.1:g.30762405_30762406del GRCh37
NC_000016.8:g.30669906_30669907del NCBI36
NG_016616.1:g.7786_7787del
NG_016616.2:g.7786_7787del

Transcript Alleles

HGVS Amino-acid Change
NM_000294.3:c.96-22_96-21del MANE Select NP_000285.1:n.96-22_96-21del
ENST00000563588.6:c.96-22_96-21del MANE Select ENSP00000455607.1:n.96-22_96-21del
NM_000294.2:c.96-22_96-21del NP_000285.1:n.96-22_96-21del
NM_001172432.1:c.96-22_96-21del NP_001165903.1:n.96-22_96-21del
NM_001172432.2:c.96-22_96-21del NP_001165903.1:n.96-22_96-21del
ENST00000328273.11:c.96-22_96-21del ENSP00000329968.7:n.96-22_96-21del
ENST00000424889.7:c.96-22_96-21del ENSP00000388571.3:n.96-22_96-21del
ENST00000563588.5:c.96-22_96-21del ENSP00000455607.1:n.96-22_96-21del
ENST00000563607.1:c.96-22_96-21del ENSP00000454641.1:n.96-22_96-21del
ENST00000563913.5:n.162-22_162-21del
ENST00000564838.5:n.203-22_203-21del
ENST00000565897.5:c.96-22_96-21del ENSP00000457359.1:n.96-22_96-21del
ENST00000565924.5:c.96-22_96-21del ENSP00000455091.1:n.96-22_96-21del
ENST00000569762.1:n.73-22_73-21del