Canonical Allele Identifier: CA2648269126

Gene: PKLR

Linked Data

• gnomAD v4: 1-155294419-CAGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155294422_155294424del , CM000663.2:g.155294422_155294424del	GRCh38
NC_000001.10:g.155264213_155264215del , CM000663.1:g.155264213_155264215del	GRCh37
NC_000001.9:g.153530837_153530839del	NCBI36
NG_011677.1:g.12013_12015del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.966-37_966-35del MANE Select	ENSP00000339933.4:n.966-37_966-35del
ENST00000342741.4:c.966-37_966-35del	ENSP00000339933.4:n.966-37_966-35del
ENST00000392414.7:c.873-37_873-35del	ENSP00000376214.3:n.873-37_873-35del
NM_000298.5:c.966-37_966-35del	NP_000289.1:n.966-37_966-35del
NM_181871.3:c.873-37_873-35del	NP_870986.1:n.873-37_873-35del
XM_005245266.3:c.1125-37_1125-35del	XP_005245323.1:n.1125-37_1125-35del
XM_006711386.2:c.774-37_774-35del	XP_006711449.1:n.774-37_774-35del
XM_011509639.1:c.1125-37_1125-35del	XP_011507941.1:n.1125-37_1125-35del
XM_011509640.1:c.774-37_774-35del	XP_011507942.1:n.774-37_774-35del
NM_000298.6:c.966-37_966-35del MANE Select	NP_000289.1:n.966-37_966-35del
XM_006711386.4:c.774-37_774-35del	XP_006711449.1:n.774-37_774-35del
XM_011509640.3:c.774-37_774-35del	XP_011507942.1:n.774-37_774-35del
XM_017001493.1:c.966-37_966-35del	XP_016856982.1:n.966-37_966-35del
NM_181871.4:c.873-37_873-35del	NP_870986.1:n.873-37_873-35del