Canonical Allele Identifier: CA1200112294

Gene: PKLR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155294762_155294790delinsTGGAAAGAGCCAGCTGCGGTCAGGGGTGA , CM000663.2:g.155294762_155294790delinsTGGAAAGAGCCAGCTGCGGTCAGGGGTGA	GRCh38
NC_000001.10:g.155264553_155264581delinsTGGAAAGAGCCAGCTGCGGTCAGGGGTGA , CM000663.1:g.155264553_155264581delinsTGGAAAGAGCCAGCTGCGGTCAGGGGTGA	GRCh37
NC_000001.9:g.153531177_153531205delinsTGGAAAGAGCCAGCTGCGGTCAGGGGTGA	NCBI36
NG_011677.1:g.11645_11673delinsTCACCCCTGACCGCAGCTGGCTCTTTCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.695-38_695-10delinsTCACCCCTGACCGCAGCTGGCTCTTTCCA MANE Select	ENSP00000339933.4:n.695-38_695-10delinsTCACCCCTGACCGCAGCTGGCT...
ENST00000342741.4:c.695-38_695-10delinsTCACCCCTGACCGCAGCTGGCTCTTTCCA	ENSP00000339933.4:n.695-38_695-10delinsTCACCCCTGACCGCAGCTGGCT...
ENST00000392414.7:c.602-38_602-10delinsTCACCCCTGACCGCAGCTGGCTCTTTCCA	ENSP00000376214.3:n.602-38_602-10delinsTCACCCCTGACCGCAGCTGGCT...
NM_000298.5:c.695-38_695-10delinsTCACCCCTGACCGCAGCTGGCTCTTTCCA	NP_000289.1:n.695-38_695-10delinsTCACCCCTGACCGCAGCTGGCTCTTTCC...
NM_181871.3:c.602-38_602-10delinsTCACCCCTGACCGCAGCTGGCTCTTTCCA	NP_870986.1:n.602-38_602-10delinsTCACCCCTGACCGCAGCTGGCTCTTTCC...
XM_005245266.3:c.854-38_854-10delinsTCACCCCTGACCGCAGCTGGCTCTTTCCA	XP_005245323.1:n.854-38_854-10delinsTCACCCCTGACCGCAGCTGGCTCTT...
XM_006711386.2:c.503-38_503-10delinsTCACCCCTGACCGCAGCTGGCTCTTTCCA	XP_006711449.1:n.503-38_503-10delinsTCACCCCTGACCGCAGCTGGCTCTT...
XM_011509639.1:c.854-38_854-10delinsTCACCCCTGACCGCAGCTGGCTCTTTCCA	XP_011507941.1:n.854-38_854-10delinsTCACCCCTGACCGCAGCTGGCTCTT...
XM_011509640.1:c.503-38_503-10delinsTCACCCCTGACCGCAGCTGGCTCTTTCCA	XP_011507942.1:n.503-38_503-10delinsTCACCCCTGACCGCAGCTGGCTCTT...
NM_000298.6:c.695-38_695-10delinsTCACCCCTGACCGCAGCTGGCTCTTTCCA MANE Select	NP_000289.1:n.695-38_695-10delinsTCACCCCTGACCGCAGCTGGCTCTTTCC...
XM_006711386.4:c.503-38_503-10delinsTCACCCCTGACCGCAGCTGGCTCTTTCCA	XP_006711449.1:n.503-38_503-10delinsTCACCCCTGACCGCAGCTGGCTCTT...
XM_011509640.3:c.503-38_503-10delinsTCACCCCTGACCGCAGCTGGCTCTTTCCA	XP_011507942.1:n.503-38_503-10delinsTCACCCCTGACCGCAGCTGGCTCTT...
XM_017001493.1:c.695-38_695-10delinsTCACCCCTGACCGCAGCTGGCTCTTTCCA	XP_016856982.1:n.695-38_695-10delinsTCACCCCTGACCGCAGCTGGCTCTT...
NM_181871.4:c.602-38_602-10delinsTCACCCCTGACCGCAGCTGGCTCTTTCCA	NP_870986.1:n.602-38_602-10delinsTCACCCCTGACCGCAGCTGGCTCTTTCC...