Canonical Allele Identifier: CA526668884

Gene: PKLR

Linked Data

• dbSNP Id: rs1557959620
• gnomAD v2: 1-155264593-AG-A
• gnomAD v4: 1-155294802-AG-A
• MyVariant Identifiers: chr1:g.155264594del (hg19) ; chr1:g.155294803del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155294803del , CM000663.2:g.155294803del	GRCh38
NC_000001.10:g.155264594del , CM000663.1:g.155264594del	GRCh37
NC_000001.9:g.153531218del	NCBI36
NG_011677.1:g.11632del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.695-51del MANE Select	ENSP00000339933.4:n.695-51del
ENST00000342741.4:c.695-51del	ENSP00000339933.4:n.695-51del
ENST00000392414.7:c.602-51del	ENSP00000376214.3:n.602-51del
NM_000298.5:c.695-51del	NP_000289.1:n.695-51del
NM_181871.3:c.602-51del	NP_870986.1:n.602-51del
XM_005245266.3:c.854-51del	XP_005245323.1:n.854-51del
XM_006711386.2:c.503-51del	XP_006711449.1:n.503-51del
XM_011509639.1:c.854-51del	XP_011507941.1:n.854-51del
XM_011509640.1:c.503-51del	XP_011507942.1:n.503-51del
NM_000298.6:c.695-51del MANE Select	NP_000289.1:n.695-51del
XM_006711386.4:c.503-51del	XP_006711449.1:n.503-51del
XM_011509640.3:c.503-51del	XP_011507942.1:n.503-51del
XM_017001493.1:c.695-51del	XP_016856982.1:n.695-51del
NM_181871.4:c.602-51del	NP_870986.1:n.602-51del