Canonical Allele Identifier: CA2481225358

Gene: PKLR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155291701_155291702delinsTG , CM000663.2:g.155291701_155291702delinsTG	GRCh38
NC_000001.10:g.155261492_155261493delinsTG , CM000663.1:g.155261492_155261493delinsTG	GRCh37
NC_000001.9:g.153528116_153528117delinsTG	NCBI36
NG_011677.1:g.14733_14734delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1618+54_1618+55delinsCA MANE Select	ENSP00000339933.4:n.1618+54_1618+55delinsCA
ENST00000342741.4:c.1618+54_1618+55delinsCA	ENSP00000339933.4:n.1618+54_1618+55delinsCA
ENST00000392414.7:c.1525+54_1525+55delinsCA	ENSP00000376214.3:n.1525+54_1525+55delinsCA
NM_000298.5:c.1618+54_1618+55delinsCA	NP_000289.1:n.1618+54_1618+55delinsCA
NM_181871.3:c.1525+54_1525+55delinsCA	NP_870986.1:n.1525+54_1525+55delinsCA
XM_005245266.3:c.1777+54_1777+55delinsCA	XP_005245323.1:n.1777+54_1777+55delinsCA
XM_006711386.2:c.1426+54_1426+55delinsCA	XP_006711449.1:n.1426+54_1426+55delinsCA
XM_011509640.1:c.1426+54_1426+55delinsCA	XP_011507942.1:n.1426+54_1426+55delinsCA
NM_000298.6:c.1618+54_1618+55delinsCA MANE Select	NP_000289.1:n.1618+54_1618+55delinsCA
XM_006711386.4:c.1426+54_1426+55delinsCA	XP_006711449.1:n.1426+54_1426+55delinsCA
XM_011509640.3:c.1426+54_1426+55delinsCA	XP_011507942.1:n.1426+54_1426+55delinsCA
NM_181871.4:c.1525+54_1525+55delinsCA	NP_870986.1:n.1525+54_1525+55delinsCA