Canonical Allele Identifier: CA526429937

Gene: PKLR

Linked Data

• dbSNP Id: rs1221421587
• gnomAD v2: 1-155260778-CAAAATA-C
• gnomAD v3: 1-155290987-CAAAATA-C
• gnomAD v4: 1-155290987-CAAAATA-C
• MyVariant Identifiers: chr1:g.155260779_155260784del (hg19) ; chr1:g.155290988_155290993del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155290989_155290994del , CM000663.2:g.155290989_155290994del	GRCh38
NC_000001.10:g.155260780_155260785del , CM000663.1:g.155260780_155260785del	GRCh37
NC_000001.9:g.153527404_153527409del	NCBI36
NG_011677.1:g.15442_15447del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1619-315_1619-310del MANE Select	ENSP00000339933.4:n.1619-315_1619-310del
ENST00000342741.4:c.1619-315_1619-310del	ENSP00000339933.4:n.1619-315_1619-310del
ENST00000392414.7:c.1526-315_1526-310del	ENSP00000376214.3:n.1526-315_1526-310del
NM_000298.5:c.1619-315_1619-310del	NP_000289.1:n.1619-315_1619-310del
NM_181871.3:c.1526-315_1526-310del	NP_870986.1:n.1526-315_1526-310del
XM_005245266.3:c.1778-315_1778-310del	XP_005245323.1:n.1778-315_1778-310del
XM_006711386.2:c.1427-315_1427-310del	XP_006711449.1:n.1427-315_1427-310del
XM_011509640.1:c.1427-315_1427-310del	XP_011507942.1:n.1427-315_1427-310del
NM_000298.6:c.1619-315_1619-310del MANE Select	NP_000289.1:n.1619-315_1619-310del
XM_006711386.4:c.1427-315_1427-310del	XP_006711449.1:n.1427-315_1427-310del
XM_011509640.3:c.1427-315_1427-310del	XP_011507942.1:n.1427-315_1427-310del
NM_181871.4:c.1526-315_1526-310del	NP_870986.1:n.1526-315_1526-310del