Canonical Allele Identifier: CA2573916944

Gene: PKLR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155292009del , CM000663.2:g.155292009del	GRCh38
NC_000001.10:g.155261800del , CM000663.1:g.155261800del	GRCh37
NC_000001.9:g.153528424del	NCBI36
NG_011677.1:g.14427del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1437-71del MANE Select	ENSP00000339933.4:n.1437-71del
ENST00000342741.4:c.1437-71del	ENSP00000339933.4:n.1437-71del
ENST00000392414.7:c.1344-71del	ENSP00000376214.3:n.1344-71del
NM_000298.5:c.1437-71del	NP_000289.1:n.1437-71del
NM_181871.3:c.1344-71del	NP_870986.1:n.1344-71del
XM_005245266.3:c.1596-71del	XP_005245323.1:n.1596-71del
XM_006711386.2:c.1245-71del	XP_006711449.1:n.1245-71del
XM_011509640.1:c.1245-71del	XP_011507942.1:n.1245-71del
NM_000298.6:c.1437-71del MANE Select	NP_000289.1:n.1437-71del
XM_006711386.4:c.1245-71del	XP_006711449.1:n.1245-71del
XM_011509640.3:c.1245-71del	XP_011507942.1:n.1245-71del
NM_181871.4:c.1344-71del	NP_870986.1:n.1344-71del