Canonical Allele Identifier: CA1144319

Gene: PKLR

Linked Data

• dbSNP Id: rs769067608
• ExAC: 1:155265203 AGC / A
• gnomAD v2: 1-155265203-AGC-A
• gnomAD v3: 1-155295412-AGC-A
• gnomAD v4: 1-155295412-AGC-A
• MyVariant Identifiers: chr1:g.155265204_155265205del (hg19) ; chr1:g.155295413_155295414del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155295414_155295415del , CM000663.2:g.155295414_155295415del	GRCh38
NC_000001.10:g.155265205_155265206del , CM000663.1:g.155265205_155265206del	GRCh37
NC_000001.9:g.153531829_153531830del	NCBI36
NG_011677.1:g.11021_11022del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.507+23_507+24del MANE Select	ENSP00000339933.4:n.507+23_507+24del
ENST00000434082.3:c.315+23_315+24del	ENSP00000398037.3:n.315+23_315+24del
ENST00000342741.4:c.507+23_507+24del	ENSP00000339933.4:n.507+23_507+24del
ENST00000392414.7:c.414+23_414+24del	ENSP00000376214.3:n.414+23_414+24del
ENST00000434082.2:c.412+23_412+24del	ENSP00000398037.2:n.412+23_412+24del
NM_000298.5:c.507+23_507+24del	NP_000289.1:n.507+23_507+24del
NM_181871.3:c.414+23_414+24del	NP_870986.1:n.414+23_414+24del
XM_005245266.3:c.666+23_666+24del	XP_005245323.1:n.666+23_666+24del
XM_006711386.2:c.315+23_315+24del	XP_006711449.1:n.315+23_315+24del
XM_011509639.1:c.666+23_666+24del	XP_011507941.1:n.666+23_666+24del
XM_011509640.1:c.315+23_315+24del	XP_011507942.1:n.315+23_315+24del
NM_000298.6:c.507+23_507+24del MANE Select	NP_000289.1:n.507+23_507+24del
XM_006711386.4:c.315+23_315+24del	XP_006711449.1:n.315+23_315+24del
XM_011509640.3:c.315+23_315+24del	XP_011507942.1:n.315+23_315+24del
XM_017001493.1:c.507+23_507+24del	XP_016856982.1:n.507+23_507+24del
NM_181871.4:c.414+23_414+24del	NP_870986.1:n.414+23_414+24del