Canonical Allele Identifier: CA1143953

Gene: PKLR

Linked Data

• dbSNP Id: rs774943390
• ExAC: 1:155261532 GTCTA / G
• gnomAD v2: 1-155261532-GTCTA-G
• MyVariant Identifiers: chr1:g.155261533_155261536del (hg19) ; chr1:g.155291742_155291745del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155291742_155291745del , CM000663.2:g.155291742_155291745del	GRCh38
NC_000001.10:g.155261533_155261536del , CM000663.1:g.155261533_155261536del	GRCh37
NC_000001.9:g.153528157_153528160del	NCBI36
NG_011677.1:g.14690_14693del

Transcript Alleles

HGVS	Amino-acid change
ENST00000342741.6:c.1618+11_1618+14del MANE Select	ENSP00000339933.4:n.1618+11_1618+14del
ENST00000342741.4:c.1618+11_1618+14del	ENSP00000339933.4:n.1618+11_1618+14del
ENST00000392414.7:c.1525+11_1525+14del	ENSP00000376214.3:n.1525+11_1525+14del
NM_000298.5:c.1618+11_1618+14del	NP_000289.1:n.1618+11_1618+14del
NM_181871.3:c.1525+11_1525+14del	NP_870986.1:n.1525+11_1525+14del
XM_005245266.3:c.1777+11_1777+14del	XP_005245323.1:n.1777+11_1777+14del
XM_006711386.2:c.1426+11_1426+14del	XP_006711449.1:n.1426+11_1426+14del
XM_011509640.1:c.1426+11_1426+14del	XP_011507942.1:n.1426+11_1426+14del
NM_000298.6:c.1618+11_1618+14del MANE Select	NP_000289.1:n.1618+11_1618+14del
XM_006711386.4:c.1426+11_1426+14del	XP_006711449.1:n.1426+11_1426+14del
XM_011509640.3:c.1426+11_1426+14del	XP_011507942.1:n.1426+11_1426+14del
NM_181871.4:c.1525+11_1525+14del	NP_870986.1:n.1525+11_1525+14del