Canonical Allele Identifier: CA2481224780

Gene: PKLR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155290517_155290525delinsGGGGAGGAA , CM000663.2:g.155290517_155290525delinsGGGGAGGAA	GRCh38
NC_000001.10:g.155260308_155260316delinsGGGGAGGAA , CM000663.1:g.155260308_155260316delinsGGGGAGGAA	GRCh37
NC_000001.9:g.153526932_153526940delinsGGGGAGGAA	NCBI36
NG_011677.1:g.15910_15918delinsTTCCTCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.*47_*55delinsTTCCTCCCC MANE Select	ENSP00000339933.4:n.*47_*55delinsTTCCTCCCC
ENST00000342741.4:c.*47_*55delinsTTCCTCCCC	ENSP00000339933.4:n.*47_*55delinsTTCCTCCCC
ENST00000392414.7:c.*47_*55delinsTTCCTCCCC	ENSP00000376214.3:n.*47_*55delinsTTCCTCCCC
NM_000298.5:c.*47_*55delinsTTCCTCCCC	NP_000289.1:n.*47_*55delinsTTCCTCCCC
NM_181871.3:c.*47_*55delinsTTCCTCCCC	NP_870986.1:n.*47_*55delinsTTCCTCCCC
XM_005245266.3:c.*47_*55delinsTTCCTCCCC	XP_005245323.1:n.*47_*55delinsTTCCTCCCC
XM_006711386.2:c.*47_*55delinsTTCCTCCCC	XP_006711449.1:n.*47_*55delinsTTCCTCCCC
XM_011509640.1:c.*47_*55delinsTTCCTCCCC	XP_011507942.1:n.*47_*55delinsTTCCTCCCC
NM_000298.6:c.*47_*55delinsTTCCTCCCC MANE Select	NP_000289.1:n.*47_*55delinsTTCCTCCCC
XM_006711386.4:c.*47_*55delinsTTCCTCCCC	XP_006711449.1:n.*47_*55delinsTTCCTCCCC
XM_011509640.3:c.*47_*55delinsTTCCTCCCC	XP_011507942.1:n.*47_*55delinsTTCCTCCCC
NM_181871.4:c.*47_*55delinsTTCCTCCCC	NP_870986.1:n.*47_*55delinsTTCCTCCCC