Canonical Allele Identifier: CA2648269135

Gene: PKLR

Linked Data

• gnomAD v4: 1-155294431-G-GGT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155294433_155294434dup , CM000663.2:g.155294433_155294434dup	GRCh38
NC_000001.10:g.155264224_155264225dup , CM000663.1:g.155264224_155264225dup	GRCh37
NC_000001.9:g.153530848_153530849dup	NCBI36
NG_011677.1:g.12002_12003dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.966-48_966-47dup MANE Select	ENSP00000339933.4:n.966-48_966-47dup
ENST00000342741.4:c.966-48_966-47dup	ENSP00000339933.4:n.966-48_966-47dup
ENST00000392414.7:c.873-48_873-47dup	ENSP00000376214.3:n.873-48_873-47dup
NM_000298.5:c.966-48_966-47dup	NP_000289.1:n.966-48_966-47dup
NM_181871.3:c.873-48_873-47dup	NP_870986.1:n.873-48_873-47dup
XM_005245266.3:c.1125-48_1125-47dup	XP_005245323.1:n.1125-48_1125-47dup
XM_006711386.2:c.774-48_774-47dup	XP_006711449.1:n.774-48_774-47dup
XM_011509639.1:c.1125-48_1125-47dup	XP_011507941.1:n.1125-48_1125-47dup
XM_011509640.1:c.774-48_774-47dup	XP_011507942.1:n.774-48_774-47dup
NM_000298.6:c.966-48_966-47dup MANE Select	NP_000289.1:n.966-48_966-47dup
XM_006711386.4:c.774-48_774-47dup	XP_006711449.1:n.774-48_774-47dup
XM_011509640.3:c.774-48_774-47dup	XP_011507942.1:n.774-48_774-47dup
XM_017001493.1:c.966-48_966-47dup	XP_016856982.1:n.966-48_966-47dup
NM_181871.4:c.873-48_873-47dup	NP_870986.1:n.873-48_873-47dup