Canonical Allele Identifier: CA2648266926

Gene: PKLR

Linked Data

• gnomAD v4: 1-155290572-TCAGGATATGCTTAGCACCCGCATG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155290573_155290596del , CM000663.2:g.155290573_155290596del	GRCh38
NC_000001.10:g.155260364_155260387del , CM000663.1:g.155260364_155260387del	GRCh37
NC_000001.9:g.153526988_153527011del	NCBI36
NG_011677.1:g.15839_15862del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1701_1724del MANE Select	ENSP00000339933.4:p.Met568_Ter575del
ENST00000342741.4:c.1701_1724del	ENSP00000339933.4:p.Met568_Ter575del
ENST00000392414.7:c.1608_1631del	ENSP00000376214.3:p.Met537_Ter544del
NM_000298.5:c.1701_1724del	NP_000289.1:p.Met568_Ter575del
NM_181871.3:c.1608_1631del	NP_870986.1:p.Met537_Ter544del
XM_005245266.3:c.1860_1883del	XP_005245323.1:p.Met621_Ter628del
XM_006711386.2:c.1509_1532del	XP_006711449.1:p.Met504_Ter511del
XM_011509640.1:c.1509_1532del	XP_011507942.1:p.Met504_Ter511del
NM_000298.6:c.1701_1724del MANE Select	NP_000289.1:p.Met568_Ter575del
XM_006711386.4:c.1509_1532del	XP_006711449.1:p.Met504_Ter511del
XM_011509640.3:c.1509_1532del	XP_011507942.1:p.Met504_Ter511del
NM_181871.4:c.1608_1631del	NP_870986.1:p.Met537_Ter544del