Canonical Allele Identifier: CA2481224919

Gene: PKLR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155290858_155290860delinsGCA , CM000663.2:g.155290858_155290860delinsGCA	GRCh38
NC_000001.10:g.155260649_155260651delinsGCA , CM000663.1:g.155260649_155260651delinsGCA	GRCh37
NC_000001.9:g.153527273_153527275delinsGCA	NCBI36
NG_011677.1:g.15575_15577delinsTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1619-182_1619-180delinsTGC MANE Select	ENSP00000339933.4:n.1619-182_1619-180delinsTGC
ENST00000342741.4:c.1619-182_1619-180delinsTGC	ENSP00000339933.4:n.1619-182_1619-180delinsTGC
ENST00000392414.7:c.1526-182_1526-180delinsTGC	ENSP00000376214.3:n.1526-182_1526-180delinsTGC
NM_000298.5:c.1619-182_1619-180delinsTGC	NP_000289.1:n.1619-182_1619-180delinsTGC
NM_181871.3:c.1526-182_1526-180delinsTGC	NP_870986.1:n.1526-182_1526-180delinsTGC
XM_005245266.3:c.1778-182_1778-180delinsTGC	XP_005245323.1:n.1778-182_1778-180delinsTGC
XM_006711386.2:c.1427-182_1427-180delinsTGC	XP_006711449.1:n.1427-182_1427-180delinsTGC
XM_011509640.1:c.1427-182_1427-180delinsTGC	XP_011507942.1:n.1427-182_1427-180delinsTGC
NM_000298.6:c.1619-182_1619-180delinsTGC MANE Select	NP_000289.1:n.1619-182_1619-180delinsTGC
XM_006711386.4:c.1427-182_1427-180delinsTGC	XP_006711449.1:n.1427-182_1427-180delinsTGC
XM_011509640.3:c.1427-182_1427-180delinsTGC	XP_011507942.1:n.1427-182_1427-180delinsTGC
NM_181871.4:c.1526-182_1526-180delinsTGC	NP_870986.1:n.1526-182_1526-180delinsTGC