Canonical Allele Identifier: CA2648269277

Gene: PKLR

Linked Data

• gnomAD v4: 1-155294512-CTGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155294517_155294519del , CM000663.2:g.155294517_155294519del	GRCh38
NC_000001.10:g.155264308_155264310del , CM000663.1:g.155264308_155264310del	GRCh37
NC_000001.9:g.153530932_153530934del	NCBI36
NG_011677.1:g.11920_11922del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.932_934del MANE Select	ENSP00000339933.4:p.Ile311del
ENST00000342741.4:c.932_934del	ENSP00000339933.4:p.Ile311del
ENST00000392414.7:c.839_841del	ENSP00000376214.3:p.Ile280del
NM_000298.5:c.932_934del	NP_000289.1:p.Ile311del
NM_181871.3:c.839_841del	NP_870986.1:p.Ile280del
XM_005245266.3:c.1091_1093del	XP_005245323.1:p.Ile364del
XM_006711386.2:c.740_742del	XP_006711449.1:p.Ile247del
XM_011509639.1:c.1091_1093del	XP_011507941.1:p.Ile364del
XM_011509640.1:c.740_742del	XP_011507942.1:p.Ile247del
NM_000298.6:c.932_934del MANE Select	NP_000289.1:p.Ile311del
XM_006711386.4:c.740_742del	XP_006711449.1:p.Ile247del
XM_011509640.3:c.740_742del	XP_011507942.1:p.Ile247del
XM_017001493.1:c.932_934del	XP_016856982.1:p.Ile311del
NM_181871.4:c.839_841del	NP_870986.1:p.Ile280del