Canonical Allele Identifier: CA2586967539

Gene: PKLR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155294656_155294660del , CM000663.2:g.155294656_155294660del	GRCh38
NC_000001.10:g.155264447_155264451del , CM000663.1:g.155264447_155264451del	GRCh37
NC_000001.9:g.153531071_153531075del	NCBI36
NG_011677.1:g.11776_11780del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.788_792del MANE Select	ENSP00000339933.4:p.Gly263ValfsTer?
ENST00000342741.4:c.788_792del	ENSP00000339933.4:p.Gly263ValfsTer?
ENST00000392414.7:c.695_699del	ENSP00000376214.3:p.Gly232ValfsTer?
NM_000298.5:c.788_792del	NP_000289.1:p.Gly263ValfsTer?
NM_181871.3:c.695_699del	NP_870986.1:p.Gly232ValfsTer?
XM_005245266.3:c.947_951del	XP_005245323.1:p.Gly316ValfsTer?
XM_006711386.2:c.596_600del	XP_006711449.1:p.Gly199ValfsTer?
XM_011509639.1:c.947_951del	XP_011507941.1:p.Gly316ValfsTer?
XM_011509640.1:c.596_600del	XP_011507942.1:p.Gly199ValfsTer?
NM_000298.6:c.788_792del MANE Select	NP_000289.1:p.Gly263ValfsTer?
XM_006711386.4:c.596_600del	XP_006711449.1:p.Gly199ValfsTer?
XM_011509640.3:c.596_600del	XP_011507942.1:p.Gly199ValfsTer?
XM_017001493.1:c.788_792del	XP_016856982.1:p.Gly263ValfsTer?
NM_181871.4:c.695_699del	NP_870986.1:p.Gly232ValfsTer?