Canonical Allele Identifier: CA2992866637

Gene: PKLR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155293354_155293355insCGGGAGGC , CM000663.2:g.155293354_155293355insCGGGAGGC	GRCh38
NC_000001.10:g.155263145_155263146insCGGGAGGC , CM000663.1:g.155263145_155263146insCGGGAGGC	GRCh37
NC_000001.9:g.153529769_153529770insCGGGAGGC	NCBI36
NG_011677.1:g.13081_13082insCCTCCCGG

Transcript Alleles

HGVS	Amino-acid Change
NM_000298.6:c.1270-11_1270-10insCCTCCCGG MANE Select	NP_000289.1:n.1270-11_1270-10insCCTCCCGG
ENST00000342741.6:c.1270-11_1270-10insCCTCCCGG MANE Select	ENSP00000339933.4:n.1270-11_1270-10insCCTCCCGG
NM_000298.5:c.1270-11_1270-10insCCTCCCGG	NP_000289.1:n.1270-11_1270-10insCCTCCCGG
NM_181871.3:c.1177-11_1177-10insCCTCCCGG	NP_870986.1:n.1177-11_1177-10insCCTCCCGG
NM_181871.4:c.1177-11_1177-10insCCTCCCGG	NP_870986.1:n.1177-11_1177-10insCCTCCCGG
ENST00000342741.4:c.1270-11_1270-10insCCTCCCGG	ENSP00000339933.4:n.1270-11_1270-10insCCTCCCGG
ENST00000392414.7:c.1177-11_1177-10insCCTCCCGG	ENSP00000376214.3:n.1177-11_1177-10insCCTCCCGG
XM_005245266.3:c.1429-11_1429-10insCCTCCCGG	XP_005245323.1:n.1429-11_1429-10insCCTCCCGG
XM_006711386.2:c.1078-11_1078-10insCCTCCCGG	XP_006711449.1:n.1078-11_1078-10insCCTCCCGG
XM_006711386.4:c.1078-11_1078-10insCCTCCCGG	XP_006711449.1:n.1078-11_1078-10insCCTCCCGG
XM_011509640.1:c.1078-11_1078-10insCCTCCCGG	XP_011507942.1:n.1078-11_1078-10insCCTCCCGG
XM_011509640.3:c.1078-11_1078-10insCCTCCCGG	XP_011507942.1:n.1078-11_1078-10insCCTCCCGG