Canonical Allele Identifier: CA2525498094

Gene: PKLR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155290625_155290629del , CM000663.2:g.155290625_155290629del	GRCh38
NC_000001.10:g.155260416_155260420del , CM000663.1:g.155260416_155260420del	GRCh37
NC_000001.9:g.153527040_153527044del	NCBI36
NG_011677.1:g.15806_15810del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1668_1672del MANE Select	ENSP00000339933.4:p.Gly557AlafsTer?
ENST00000342741.4:c.1668_1672del	ENSP00000339933.4:p.Gly557AlafsTer?
ENST00000392414.7:c.1575_1579del	ENSP00000376214.3:p.Gly526AlafsTer?
NM_000298.5:c.1668_1672del	NP_000289.1:p.Gly557AlafsTer?
NM_181871.3:c.1575_1579del	NP_870986.1:p.Gly526AlafsTer?
XM_005245266.3:c.1827_1831del	XP_005245323.1:p.Gly610AlafsTer?
XM_006711386.2:c.1476_1480del	XP_006711449.1:p.Gly493AlafsTer?
XM_011509640.1:c.1476_1480del	XP_011507942.1:p.Gly493AlafsTer?
NM_000298.6:c.1668_1672del MANE Select	NP_000289.1:p.Gly557AlafsTer?
XM_006711386.4:c.1476_1480del	XP_006711449.1:p.Gly493AlafsTer?
XM_011509640.3:c.1476_1480del	XP_011507942.1:p.Gly493AlafsTer?
NM_181871.4:c.1575_1579del	NP_870986.1:p.Gly526AlafsTer?