Canonical Allele Identifier: CA2648266931

Gene: PKLR

Linked Data

• gnomAD v4: 1-155290582-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155290584del , CM000663.2:g.155290584del	GRCh38
NC_000001.10:g.155260375del , CM000663.1:g.155260375del	GRCh37
NC_000001.9:g.153526999del	NCBI36
NG_011677.1:g.15852del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1714del MANE Select	ENSP00000339933.4:p.Ser572AlafsTer?
ENST00000342741.4:c.1714del	ENSP00000339933.4:p.Ser572AlafsTer?
ENST00000392414.7:c.1621del	ENSP00000376214.3:p.Ser541AlafsTer?
NM_000298.5:c.1714del	NP_000289.1:p.Ser572AlafsTer?
NM_181871.3:c.1621del	NP_870986.1:p.Ser541AlafsTer?
XM_005245266.3:c.1873del	XP_005245323.1:p.Ser625AlafsTer?
XM_006711386.2:c.1522del	XP_006711449.1:p.Ser508AlafsTer?
XM_011509640.1:c.1522del	XP_011507942.1:p.Ser508AlafsTer?
NM_000298.6:c.1714del MANE Select	NP_000289.1:p.Ser572AlafsTer?
XM_006711386.4:c.1522del	XP_006711449.1:p.Ser508AlafsTer?
XM_011509640.3:c.1522del	XP_011507942.1:p.Ser508AlafsTer?
NM_181871.4:c.1621del	NP_870986.1:p.Ser541AlafsTer?