Canonical Allele Identifier: CA30899771

Gene: PKLR

Linked Data

• dbSNP Id: rs201306934
• gnomAD v2: 1-155260780-AAATAATAATAATAAT-A
• gnomAD v3: 1-155290989-AAATAATAATAATAAT-A
• gnomAD v4: 1-155290989-AAATAATAATAATAAT-A
• MyVariant Identifiers: chr1:g.155260787_155260801del (hg19) ; chr1:g.155260781_155260795del (hg19) ; chr1:g.155290996_155291010del (hg38) ; chr1:g.155290990_155291004del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155291028_155291042del , CM000663.2:g.155291028_155291042del	GRCh38
NC_000001.10:g.155260819_155260833del , CM000663.1:g.155260819_155260833del	GRCh37
NC_000001.9:g.153527443_153527457del	NCBI36
NG_011677.1:g.15431_15445del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1619-326_1619-312del MANE Select	ENSP00000339933.4:n.1619-326_1619-312del
ENST00000342741.4:c.1619-326_1619-312del	ENSP00000339933.4:n.1619-326_1619-312del
ENST00000392414.7:c.1526-326_1526-312del	ENSP00000376214.3:n.1526-326_1526-312del
NM_000298.5:c.1619-326_1619-312del	NP_000289.1:n.1619-326_1619-312del
NM_181871.3:c.1526-326_1526-312del	NP_870986.1:n.1526-326_1526-312del
XM_005245266.3:c.1778-326_1778-312del	XP_005245323.1:n.1778-326_1778-312del
XM_006711386.2:c.1427-326_1427-312del	XP_006711449.1:n.1427-326_1427-312del
XM_011509640.1:c.1427-326_1427-312del	XP_011507942.1:n.1427-326_1427-312del
NM_000298.6:c.1619-326_1619-312del MANE Select	NP_000289.1:n.1619-326_1619-312del
XM_006711386.4:c.1427-326_1427-312del	XP_006711449.1:n.1427-326_1427-312del
XM_011509640.3:c.1427-326_1427-312del	XP_011507942.1:n.1427-326_1427-312del
NM_181871.4:c.1526-326_1526-312del	NP_870986.1:n.1526-326_1526-312del