Canonical Allele Identifier: CA2481225460

Gene: PKLR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155291987_155291988delinsGA , CM000663.2:g.155291987_155291988delinsGA	GRCh38
NC_000001.10:g.155261778_155261779delinsGA , CM000663.1:g.155261778_155261779delinsGA	GRCh37
NC_000001.9:g.153528402_153528403delinsGA	NCBI36
NG_011677.1:g.14447_14448delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1437-51_1437-50delinsTC MANE Select	ENSP00000339933.4:n.1437-51_1437-50delinsTC
ENST00000342741.4:c.1437-51_1437-50delinsTC	ENSP00000339933.4:n.1437-51_1437-50delinsTC
ENST00000392414.7:c.1344-51_1344-50delinsTC	ENSP00000376214.3:n.1344-51_1344-50delinsTC
NM_000298.5:c.1437-51_1437-50delinsTC	NP_000289.1:n.1437-51_1437-50delinsTC
NM_181871.3:c.1344-51_1344-50delinsTC	NP_870986.1:n.1344-51_1344-50delinsTC
XM_005245266.3:c.1596-51_1596-50delinsTC	XP_005245323.1:n.1596-51_1596-50delinsTC
XM_006711386.2:c.1245-51_1245-50delinsTC	XP_006711449.1:n.1245-51_1245-50delinsTC
XM_011509640.1:c.1245-51_1245-50delinsTC	XP_011507942.1:n.1245-51_1245-50delinsTC
NM_000298.6:c.1437-51_1437-50delinsTC MANE Select	NP_000289.1:n.1437-51_1437-50delinsTC
XM_006711386.4:c.1245-51_1245-50delinsTC	XP_006711449.1:n.1245-51_1245-50delinsTC
XM_011509640.3:c.1245-51_1245-50delinsTC	XP_011507942.1:n.1245-51_1245-50delinsTC
NM_181871.4:c.1344-51_1344-50delinsTC	NP_870986.1:n.1344-51_1344-50delinsTC