Canonical Allele Identifier: CA2481224970

Gene: PKLR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155290948_155290949delinsCA , CM000663.2:g.155290948_155290949delinsCA	GRCh38
NC_000001.10:g.155260739_155260740delinsCA , CM000663.1:g.155260739_155260740delinsCA	GRCh37
NC_000001.9:g.153527363_153527364delinsCA	NCBI36
NG_011677.1:g.15486_15487delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1619-271_1619-270delinsTG MANE Select	ENSP00000339933.4:n.1619-271_1619-270delinsTG
ENST00000342741.4:c.1619-271_1619-270delinsTG	ENSP00000339933.4:n.1619-271_1619-270delinsTG
ENST00000392414.7:c.1526-271_1526-270delinsTG	ENSP00000376214.3:n.1526-271_1526-270delinsTG
NM_000298.5:c.1619-271_1619-270delinsTG	NP_000289.1:n.1619-271_1619-270delinsTG
NM_181871.3:c.1526-271_1526-270delinsTG	NP_870986.1:n.1526-271_1526-270delinsTG
XM_005245266.3:c.1778-271_1778-270delinsTG	XP_005245323.1:n.1778-271_1778-270delinsTG
XM_006711386.2:c.1427-271_1427-270delinsTG	XP_006711449.1:n.1427-271_1427-270delinsTG
XM_011509640.1:c.1427-271_1427-270delinsTG	XP_011507942.1:n.1427-271_1427-270delinsTG
NM_000298.6:c.1619-271_1619-270delinsTG MANE Select	NP_000289.1:n.1619-271_1619-270delinsTG
XM_006711386.4:c.1427-271_1427-270delinsTG	XP_006711449.1:n.1427-271_1427-270delinsTG
XM_011509640.3:c.1427-271_1427-270delinsTG	XP_011507942.1:n.1427-271_1427-270delinsTG
NM_181871.4:c.1526-271_1526-270delinsTG	NP_870986.1:n.1526-271_1526-270delinsTG