Canonical Allele Identifier: CA2481224964

Gene: PKLR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155290941_155290942delinsAT , CM000663.2:g.155290941_155290942delinsAT	GRCh38
NC_000001.10:g.155260732_155260733delinsAT , CM000663.1:g.155260732_155260733delinsAT	GRCh37
NC_000001.9:g.153527356_153527357delinsAT	NCBI36
NG_011677.1:g.15493_15494delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1619-264_1619-263delinsAT MANE Select	ENSP00000339933.4:n.1619-264_1619-263delinsAT
ENST00000342741.4:c.1619-264_1619-263delinsAT	ENSP00000339933.4:n.1619-264_1619-263delinsAT
ENST00000392414.7:c.1526-264_1526-263delinsAT	ENSP00000376214.3:n.1526-264_1526-263delinsAT
NM_000298.5:c.1619-264_1619-263delinsAT	NP_000289.1:n.1619-264_1619-263delinsAT
NM_181871.3:c.1526-264_1526-263delinsAT	NP_870986.1:n.1526-264_1526-263delinsAT
XM_005245266.3:c.1778-264_1778-263delinsAT	XP_005245323.1:n.1778-264_1778-263delinsAT
XM_006711386.2:c.1427-264_1427-263delinsAT	XP_006711449.1:n.1427-264_1427-263delinsAT
XM_011509640.1:c.1427-264_1427-263delinsAT	XP_011507942.1:n.1427-264_1427-263delinsAT
NM_000298.6:c.1619-264_1619-263delinsAT MANE Select	NP_000289.1:n.1619-264_1619-263delinsAT
XM_006711386.4:c.1427-264_1427-263delinsAT	XP_006711449.1:n.1427-264_1427-263delinsAT
XM_011509640.3:c.1427-264_1427-263delinsAT	XP_011507942.1:n.1427-264_1427-263delinsAT
NM_181871.4:c.1526-264_1526-263delinsAT	NP_870986.1:n.1526-264_1526-263delinsAT