Canonical Allele Identifier: CA2481224781

Gene: PKLR

Linked Data

• dbSNP Id: rs1674482754
• gnomAD v4: 1-155290517-GGGGAGGAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155290522_155290529del , CM000663.2:g.155290522_155290529del	GRCh38
NC_000001.10:g.155260313_155260320del , CM000663.1:g.155260313_155260320del	GRCh37
NC_000001.9:g.153526937_153526944del	NCBI36
NG_011677.1:g.15910_15917del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.*47_*54del MANE Select	ENSP00000339933.4:n.*47_*54del
ENST00000342741.4:c.*47_*54del	ENSP00000339933.4:n.*47_*54del
ENST00000392414.7:c.*47_*54del	ENSP00000376214.3:n.*47_*54del
NM_000298.5:c.*47_*54del	NP_000289.1:n.*47_*54del
NM_181871.3:c.*47_*54del	NP_870986.1:n.*47_*54del
XM_005245266.3:c.*47_*54del	XP_005245323.1:n.*47_*54del
XM_006711386.2:c.*47_*54del	XP_006711449.1:n.*47_*54del
XM_011509640.1:c.*47_*54del	XP_011507942.1:n.*47_*54del
NM_000298.6:c.*47_*54del MANE Select	NP_000289.1:n.*47_*54del
XM_006711386.4:c.*47_*54del	XP_006711449.1:n.*47_*54del
XM_011509640.3:c.*47_*54del	XP_011507942.1:n.*47_*54del
NM_181871.4:c.*47_*54del	NP_870986.1:n.*47_*54del