Canonical Allele Identifier: CA526429898

Gene: PKLR

Linked Data

• dbSNP Id: rs1417702146
• gnomAD v2: 1-155260583-C-CTTGGTGTTCTCACCTGTAA
• MyVariant Identifiers: chr1:g.155260583_155260584insTTGGTGTTCTCACCTGTAA (hg19) ; chr1:g.155290792_155290793insTTGGTGTTCTCACCTGTAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155290792_155290793insTTGGTGTTCTCACCTGTAA , CM000663.2:g.155290792_155290793insTTGGTGTTCTCACCTGTAA	GRCh38
NC_000001.10:g.155260583_155260584insTTGGTGTTCTCACCTGTAA , CM000663.1:g.155260583_155260584insTTGGTGTTCTCACCTGTAA	GRCh37
NC_000001.9:g.153527207_153527208insTTGGTGTTCTCACCTGTAA	NCBI36
NG_011677.1:g.15642_15643insTTACAGGTGAGAACACCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1619-115_1619-114insTTACAGGTGAGAACACCAA MANE Select	ENSP00000339933.4:n.1619-115_1619-114insTTACAGGTGAGAACACCAA
ENST00000342741.4:c.1619-115_1619-114insTTACAGGTGAGAACACCAA	ENSP00000339933.4:n.1619-115_1619-114insTTACAGGTGAGAACACCAA
ENST00000392414.7:c.1526-115_1526-114insTTACAGGTGAGAACACCAA	ENSP00000376214.3:n.1526-115_1526-114insTTACAGGTGAGAACACCAA
NM_000298.5:c.1619-115_1619-114insTTACAGGTGAGAACACCAA	NP_000289.1:n.1619-115_1619-114insTTACAGGTGAGAACACCAA
NM_181871.3:c.1526-115_1526-114insTTACAGGTGAGAACACCAA	NP_870986.1:n.1526-115_1526-114insTTACAGGTGAGAACACCAA
XM_005245266.3:c.1778-115_1778-114insTTACAGGTGAGAACACCAA	XP_005245323.1:n.1778-115_1778-114insTTACAGGTGAGAACACCAA
XM_006711386.2:c.1427-115_1427-114insTTACAGGTGAGAACACCAA	XP_006711449.1:n.1427-115_1427-114insTTACAGGTGAGAACACCAA
XM_011509640.1:c.1427-115_1427-114insTTACAGGTGAGAACACCAA	XP_011507942.1:n.1427-115_1427-114insTTACAGGTGAGAACACCAA
NM_000298.6:c.1619-115_1619-114insTTACAGGTGAGAACACCAA MANE Select	NP_000289.1:n.1619-115_1619-114insTTACAGGTGAGAACACCAA
XM_006711386.4:c.1427-115_1427-114insTTACAGGTGAGAACACCAA	XP_006711449.1:n.1427-115_1427-114insTTACAGGTGAGAACACCAA
XM_011509640.3:c.1427-115_1427-114insTTACAGGTGAGAACACCAA	XP_011507942.1:n.1427-115_1427-114insTTACAGGTGAGAACACCAA
NM_181871.4:c.1526-115_1526-114insTTACAGGTGAGAACACCAA	NP_870986.1:n.1526-115_1526-114insTTACAGGTGAGAACACCAA