Canonical Allele Identifier: CA889655576

Gene: PKLR

Linked Data

• dbSNP Id: rs201306934
• gnomAD v3: 1-155290989-A-AAATAAT
• gnomAD v4: 1-155290989-A-AAATAAT
• MyVariant Identifiers: chr1:g.155260780_155260781insAATAAT (hg19) ; chr1:g.155290989_155290990insAATAAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155291037_155291042dup , CM000663.2:g.155291037_155291042dup	GRCh38
NC_000001.10:g.155260828_155260833dup , CM000663.1:g.155260828_155260833dup	GRCh37
NC_000001.9:g.153527452_153527457dup	NCBI36
NG_011677.1:g.15440_15445dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1619-317_1619-312dup MANE Select	ENSP00000339933.4:n.1619-317_1619-312dup
ENST00000342741.4:c.1619-317_1619-312dup	ENSP00000339933.4:n.1619-317_1619-312dup
ENST00000392414.7:c.1526-317_1526-312dup	ENSP00000376214.3:n.1526-317_1526-312dup
NM_000298.5:c.1619-317_1619-312dup	NP_000289.1:n.1619-317_1619-312dup
NM_181871.3:c.1526-317_1526-312dup	NP_870986.1:n.1526-317_1526-312dup
XM_005245266.3:c.1778-317_1778-312dup	XP_005245323.1:n.1778-317_1778-312dup
XM_006711386.2:c.1427-317_1427-312dup	XP_006711449.1:n.1427-317_1427-312dup
XM_011509640.1:c.1427-317_1427-312dup	XP_011507942.1:n.1427-317_1427-312dup
NM_000298.6:c.1619-317_1619-312dup MANE Select	NP_000289.1:n.1619-317_1619-312dup
XM_006711386.4:c.1427-317_1427-312dup	XP_006711449.1:n.1427-317_1427-312dup
XM_011509640.3:c.1427-317_1427-312dup	XP_011507942.1:n.1427-317_1427-312dup
NM_181871.4:c.1526-317_1526-312dup	NP_870986.1:n.1526-317_1526-312dup