Canonical Allele Identifier: CA2481224955

Gene: PKLR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155290932_155290933delinsTG , CM000663.2:g.155290932_155290933delinsTG	GRCh38
NC_000001.10:g.155260723_155260724delinsTG , CM000663.1:g.155260723_155260724delinsTG	GRCh37
NC_000001.9:g.153527347_153527348delinsTG	NCBI36
NG_011677.1:g.15502_15503delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1619-255_1619-254delinsCA MANE Select	ENSP00000339933.4:n.1619-255_1619-254delinsCA
ENST00000342741.4:c.1619-255_1619-254delinsCA	ENSP00000339933.4:n.1619-255_1619-254delinsCA
ENST00000392414.7:c.1526-255_1526-254delinsCA	ENSP00000376214.3:n.1526-255_1526-254delinsCA
NM_000298.5:c.1619-255_1619-254delinsCA	NP_000289.1:n.1619-255_1619-254delinsCA
NM_181871.3:c.1526-255_1526-254delinsCA	NP_870986.1:n.1526-255_1526-254delinsCA
XM_005245266.3:c.1778-255_1778-254delinsCA	XP_005245323.1:n.1778-255_1778-254delinsCA
XM_006711386.2:c.1427-255_1427-254delinsCA	XP_006711449.1:n.1427-255_1427-254delinsCA
XM_011509640.1:c.1427-255_1427-254delinsCA	XP_011507942.1:n.1427-255_1427-254delinsCA
NM_000298.6:c.1619-255_1619-254delinsCA MANE Select	NP_000289.1:n.1619-255_1619-254delinsCA
XM_006711386.4:c.1427-255_1427-254delinsCA	XP_006711449.1:n.1427-255_1427-254delinsCA
XM_011509640.3:c.1427-255_1427-254delinsCA	XP_011507942.1:n.1427-255_1427-254delinsCA
NM_181871.4:c.1526-255_1526-254delinsCA	NP_870986.1:n.1526-255_1526-254delinsCA