Canonical Allele Identifier: CA10608268

Gene: PKLR

Linked Data

• ClinVar Variation Id: 292815
• ClinVar RCV Id: RCV000371504 ; RCV002487303 ; RCV003137903
• dbSNP Id: rs886045351
• gnomAD v2: 1-155265341-CGAT-C
• gnomAD v3: 1-155295550-CGAT-C
• gnomAD v4: 1-155295550-CGAT-C
• MyVariant Identifiers: chr1:g.155265342_155265344del (hg19) ; chr1:g.155295551_155295553del (hg38)
• PubMed: PMID:7655861 ; PMID:7919353 ; PMID:8483951

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155295552_155295554del , CM000663.2:g.155295552_155295554del	GRCh38
NC_000001.10:g.155265343_155265345del , CM000663.1:g.155265343_155265345del	GRCh37
NC_000001.9:g.153531967_153531969del	NCBI36
NG_011677.1:g.10882_10884del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.391_393del MANE Select	ENSP00000339933.4:p.Ile131del
ENST00000434082.3:c.199_201del	ENSP00000398037.3:p.Ile67del
ENST00000342741.4:c.391_393del	ENSP00000339933.4:p.Ile131del
ENST00000392414.7:c.298_300del	ENSP00000376214.3:p.Ile100del
ENST00000434082.2:c.296_298del	ENSP00000398037.2:n.296_298del
NM_000298.5:c.391_393del	NP_000289.1:p.Ile131del
NM_181871.3:c.298_300del	NP_870986.1:p.Ile100del
XM_005245266.3:c.550_552del	XP_005245323.1:p.Ile184del
XM_006711386.2:c.199_201del	XP_006711449.1:p.Ile67del
XM_011509639.1:c.550_552del	XP_011507941.1:p.Ile184del
XM_011509640.1:c.199_201del	XP_011507942.1:p.Ile67del
NM_000298.6:c.391_393del MANE Select	NP_000289.1:p.Ile131del
XM_006711386.4:c.199_201del	XP_006711449.1:p.Ile67del
XM_011509640.3:c.199_201del	XP_011507942.1:p.Ile67del
XM_017001493.1:c.391_393del	XP_016856982.1:p.Ile131del
NM_181871.4:c.298_300del	NP_870986.1:p.Ile100del