Canonical Allele Identifier: CA2746210346

Gene: PKLR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155290992_155290999del , CM000663.2:g.155290992_155290999del	GRCh38
NC_000001.10:g.155260783_155260790del , CM000663.1:g.155260783_155260790del	GRCh37
NC_000001.9:g.153527407_153527414del	NCBI36
NG_011677.1:g.15437_15444del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1619-320_1619-313del MANE Select	ENSP00000339933.4:n.1619-320_1619-313del
ENST00000342741.4:c.1619-320_1619-313del	ENSP00000339933.4:n.1619-320_1619-313del
ENST00000392414.7:c.1526-320_1526-313del	ENSP00000376214.3:n.1526-320_1526-313del
NM_000298.5:c.1619-320_1619-313del	NP_000289.1:n.1619-320_1619-313del
NM_181871.3:c.1526-320_1526-313del	NP_870986.1:n.1526-320_1526-313del
XM_005245266.3:c.1778-320_1778-313del	XP_005245323.1:n.1778-320_1778-313del
XM_006711386.2:c.1427-320_1427-313del	XP_006711449.1:n.1427-320_1427-313del
XM_011509640.1:c.1427-320_1427-313del	XP_011507942.1:n.1427-320_1427-313del
NM_000298.6:c.1619-320_1619-313del MANE Select	NP_000289.1:n.1619-320_1619-313del
XM_006711386.4:c.1427-320_1427-313del	XP_006711449.1:n.1427-320_1427-313del
XM_011509640.3:c.1427-320_1427-313del	XP_011507942.1:n.1427-320_1427-313del
NM_181871.4:c.1526-320_1526-313del	NP_870986.1:n.1526-320_1526-313del