Canonical Allele Identifier: CA2514204456

Gene: PKLR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155290609_155290610insT , CM000663.2:g.155290609_155290610insT	GRCh38
NC_000001.10:g.155260400_155260401insT , CM000663.1:g.155260400_155260401insT	GRCh37
NC_000001.9:g.153527024_153527025insT	NCBI36
NG_011677.1:g.15825_15826insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1687_1688insA MANE Select	ENSP00000339933.4:p.Gly563GlufsTer?
ENST00000342741.4:c.1687_1688insA	ENSP00000339933.4:p.Gly563GlufsTer?
ENST00000392414.7:c.1594_1595insA	ENSP00000376214.3:p.Gly532GlufsTer?
NM_000298.5:c.1687_1688insA	NP_000289.1:p.Gly563GlufsTer?
NM_181871.3:c.1594_1595insA	NP_870986.1:p.Gly532GlufsTer?
XM_005245266.3:c.1846_1847insA	XP_005245323.1:p.Gly616GlufsTer?
XM_006711386.2:c.1495_1496insA	XP_006711449.1:p.Gly499GlufsTer?
XM_011509640.1:c.1495_1496insA	XP_011507942.1:p.Gly499GlufsTer?
NM_000298.6:c.1687_1688insA MANE Select	NP_000289.1:p.Gly563GlufsTer?
XM_006711386.4:c.1495_1496insA	XP_006711449.1:p.Gly499GlufsTer?
XM_011509640.3:c.1495_1496insA	XP_011507942.1:p.Gly499GlufsTer?
NM_181871.4:c.1594_1595insA	NP_870986.1:p.Gly532GlufsTer?