Canonical Allele Identifier: CA2586967536

Gene: PKLR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155294539_155294540del , CM000663.2:g.155294539_155294540del	GRCh38
NC_000001.10:g.155264330_155264331del , CM000663.1:g.155264330_155264331del	GRCh37
NC_000001.9:g.153530954_153530955del	NCBI36
NG_011677.1:g.11895_11896del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.907_908del MANE Select	ENSP00000339933.4:p.Pro303GlyfsTer12
ENST00000342741.4:c.907_908del	ENSP00000339933.4:p.Pro303GlyfsTer12
ENST00000392414.7:c.814_815del	ENSP00000376214.3:p.Pro272GlyfsTer12
NM_000298.5:c.907_908del	NP_000289.1:p.Pro303GlyfsTer12
NM_181871.3:c.814_815del	NP_870986.1:p.Pro272GlyfsTer12
XM_005245266.3:c.1066_1067del	XP_005245323.1:p.Pro356GlyfsTer12
XM_006711386.2:c.715_716del	XP_006711449.1:p.Pro239GlyfsTer12
XM_011509639.1:c.1066_1067del	XP_011507941.1:p.Pro356GlyfsTer12
XM_011509640.1:c.715_716del	XP_011507942.1:p.Pro239GlyfsTer12
NM_000298.6:c.907_908del MANE Select	NP_000289.1:p.Pro303GlyfsTer12
XM_006711386.4:c.715_716del	XP_006711449.1:p.Pro239GlyfsTer12
XM_011509640.3:c.715_716del	XP_011507942.1:p.Pro239GlyfsTer12
XM_017001493.1:c.907_908del	XP_016856982.1:p.Pro303GlyfsTer12
NM_181871.4:c.814_815del	NP_870986.1:p.Pro272GlyfsTer12