Canonical Allele Identifier: CA2481225472

Gene: PKLR

Linked Data

• dbSNP Id: rs1647245396

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155292048_155292051dup , CM000663.2:g.155292048_155292051dup	GRCh38
NC_000001.10:g.155261839_155261842dup , CM000663.1:g.155261839_155261842dup	GRCh37
NC_000001.9:g.153528463_153528466dup	NCBI36
NG_011677.1:g.14386_14389dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1437-112_1437-109dup MANE Select	ENSP00000339933.4:n.1437-112_1437-109dup
ENST00000342741.4:c.1437-112_1437-109dup	ENSP00000339933.4:n.1437-112_1437-109dup
ENST00000392414.7:c.1344-112_1344-109dup	ENSP00000376214.3:n.1344-112_1344-109dup
NM_000298.5:c.1437-112_1437-109dup	NP_000289.1:n.1437-112_1437-109dup
NM_181871.3:c.1344-112_1344-109dup	NP_870986.1:n.1344-112_1344-109dup
XM_005245266.3:c.1596-112_1596-109dup	XP_005245323.1:n.1596-112_1596-109dup
XM_006711386.2:c.1245-112_1245-109dup	XP_006711449.1:n.1245-112_1245-109dup
XM_011509640.1:c.1245-112_1245-109dup	XP_011507942.1:n.1245-112_1245-109dup
NM_000298.6:c.1437-112_1437-109dup MANE Select	NP_000289.1:n.1437-112_1437-109dup
XM_006711386.4:c.1245-112_1245-109dup	XP_006711449.1:n.1245-112_1245-109dup
XM_011509640.3:c.1245-112_1245-109dup	XP_011507942.1:n.1245-112_1245-109dup
NM_181871.4:c.1344-112_1344-109dup	NP_870986.1:n.1344-112_1344-109dup