Canonical Allele Identifier: CA2481225331

Gene: PKLR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155291639_155291640delinsAG , CM000663.2:g.155291639_155291640delinsAG	GRCh38
NC_000001.10:g.155261430_155261431delinsAG , CM000663.1:g.155261430_155261431delinsAG	GRCh37
NC_000001.9:g.153528054_153528055delinsAG	NCBI36
NG_011677.1:g.14795_14796delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1618+116_1618+117delinsCT MANE Select	ENSP00000339933.4:n.1618+116_1618+117delinsCT
ENST00000342741.4:c.1618+116_1618+117delinsCT	ENSP00000339933.4:n.1618+116_1618+117delinsCT
ENST00000392414.7:c.1525+116_1525+117delinsCT	ENSP00000376214.3:n.1525+116_1525+117delinsCT
NM_000298.5:c.1618+116_1618+117delinsCT	NP_000289.1:n.1618+116_1618+117delinsCT
NM_181871.3:c.1525+116_1525+117delinsCT	NP_870986.1:n.1525+116_1525+117delinsCT
XM_005245266.3:c.1777+116_1777+117delinsCT	XP_005245323.1:n.1777+116_1777+117delinsCT
XM_006711386.2:c.1426+116_1426+117delinsCT	XP_006711449.1:n.1426+116_1426+117delinsCT
XM_011509640.1:c.1426+116_1426+117delinsCT	XP_011507942.1:n.1426+116_1426+117delinsCT
NM_000298.6:c.1618+116_1618+117delinsCT MANE Select	NP_000289.1:n.1618+116_1618+117delinsCT
XM_006711386.4:c.1426+116_1426+117delinsCT	XP_006711449.1:n.1426+116_1426+117delinsCT
XM_011509640.3:c.1426+116_1426+117delinsCT	XP_011507942.1:n.1426+116_1426+117delinsCT
NM_181871.4:c.1525+116_1525+117delinsCT	NP_870986.1:n.1525+116_1525+117delinsCT