Canonical Allele Identifier: CA1143926

Gene: PKLR

Linked Data

• ClinVar Variation Id: 2690489
• ClinVar RCV Id: RCV003491868
• dbSNP Id: rs771142025
• ExAC: 1:155260404 AGCCAGGTC / A
• gnomAD v2: 1-155260404-AGCCAGGTC-A
• gnomAD v3: 1-155290613-AGCCAGGTC-A
• gnomAD v4: 1-155290613-AGCCAGGTC-A
• MyVariant Identifiers: chr1:g.155260405_155260412del (hg19) ; chr1:g.155290614_155290621del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155290619_155290626del , CM000663.2:g.155290619_155290626del	GRCh38
NC_000001.10:g.155260410_155260417del , CM000663.1:g.155260410_155260417del	GRCh37
NC_000001.9:g.153527034_153527041del	NCBI36
NG_011677.1:g.15814_15821del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1676_1683del MANE Select	ENSP00000339933.4:p.Arg559LeufsTer?
ENST00000342741.4:c.1676_1683del	ENSP00000339933.4:p.Arg559LeufsTer?
ENST00000392414.7:c.1583_1590del	ENSP00000376214.3:p.Arg528LeufsTer?
NM_000298.5:c.1676_1683del	NP_000289.1:p.Arg559LeufsTer?
NM_181871.3:c.1583_1590del	NP_870986.1:p.Arg528LeufsTer?
XM_005245266.3:c.1835_1842del	XP_005245323.1:p.Arg612LeufsTer?
XM_006711386.2:c.1484_1491del	XP_006711449.1:p.Arg495LeufsTer?
XM_011509640.1:c.1484_1491del	XP_011507942.1:p.Arg495LeufsTer?
NM_000298.6:c.1676_1683del MANE Select	NP_000289.1:p.Arg559LeufsTer?
XM_006711386.4:c.1484_1491del	XP_006711449.1:p.Arg495LeufsTer?
XM_011509640.3:c.1484_1491del	XP_011507942.1:p.Arg495LeufsTer?
NM_181871.4:c.1583_1590del	NP_870986.1:p.Arg528LeufsTer?