Canonical Allele Identifier: CA1200112312

Gene: PKLR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155294794_155294795delinsCG , CM000663.2:g.155294794_155294795delinsCG	GRCh38
NC_000001.10:g.155264585_155264586delinsCG , CM000663.1:g.155264585_155264586delinsCG	GRCh37
NC_000001.9:g.153531209_153531210delinsCG	NCBI36
NG_011677.1:g.11640_11641delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.695-43_695-42delinsCG MANE Select	ENSP00000339933.4:n.695-43_695-42delinsCG
ENST00000342741.4:c.695-43_695-42delinsCG	ENSP00000339933.4:n.695-43_695-42delinsCG
ENST00000392414.7:c.602-43_602-42delinsCG	ENSP00000376214.3:n.602-43_602-42delinsCG
NM_000298.5:c.695-43_695-42delinsCG	NP_000289.1:n.695-43_695-42delinsCG
NM_181871.3:c.602-43_602-42delinsCG	NP_870986.1:n.602-43_602-42delinsCG
XM_005245266.3:c.854-43_854-42delinsCG	XP_005245323.1:n.854-43_854-42delinsCG
XM_006711386.2:c.503-43_503-42delinsCG	XP_006711449.1:n.503-43_503-42delinsCG
XM_011509639.1:c.854-43_854-42delinsCG	XP_011507941.1:n.854-43_854-42delinsCG
XM_011509640.1:c.503-43_503-42delinsCG	XP_011507942.1:n.503-43_503-42delinsCG
NM_000298.6:c.695-43_695-42delinsCG MANE Select	NP_000289.1:n.695-43_695-42delinsCG
XM_006711386.4:c.503-43_503-42delinsCG	XP_006711449.1:n.503-43_503-42delinsCG
XM_011509640.3:c.503-43_503-42delinsCG	XP_011507942.1:n.503-43_503-42delinsCG
XM_017001493.1:c.695-43_695-42delinsCG	XP_016856982.1:n.695-43_695-42delinsCG
NM_181871.4:c.602-43_602-42delinsCG	NP_870986.1:n.602-43_602-42delinsCG