Canonical Allele Identifier: CA2481224916

Gene: PKLR

Linked Data

• dbSNP Id: rs1674501289
• gnomAD v3: 1-155290855-GGC-G
• gnomAD v4: 1-155290855-GGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155290858_155290859del , CM000663.2:g.155290858_155290859del	GRCh38
NC_000001.10:g.155260649_155260650del , CM000663.1:g.155260649_155260650del	GRCh37
NC_000001.9:g.153527273_153527274del	NCBI36
NG_011677.1:g.15578_15579del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1619-179_1619-178del MANE Select	ENSP00000339933.4:n.1619-179_1619-178del
ENST00000342741.4:c.1619-179_1619-178del	ENSP00000339933.4:n.1619-179_1619-178del
ENST00000392414.7:c.1526-179_1526-178del	ENSP00000376214.3:n.1526-179_1526-178del
NM_000298.5:c.1619-179_1619-178del	NP_000289.1:n.1619-179_1619-178del
NM_181871.3:c.1526-179_1526-178del	NP_870986.1:n.1526-179_1526-178del
XM_005245266.3:c.1778-179_1778-178del	XP_005245323.1:n.1778-179_1778-178del
XM_006711386.2:c.1427-179_1427-178del	XP_006711449.1:n.1427-179_1427-178del
XM_011509640.1:c.1427-179_1427-178del	XP_011507942.1:n.1427-179_1427-178del
NM_000298.6:c.1619-179_1619-178del MANE Select	NP_000289.1:n.1619-179_1619-178del
XM_006711386.4:c.1427-179_1427-178del	XP_006711449.1:n.1427-179_1427-178del
XM_011509640.3:c.1427-179_1427-178del	XP_011507942.1:n.1427-179_1427-178del
NM_181871.4:c.1526-179_1526-178del	NP_870986.1:n.1526-179_1526-178del