Canonical Allele Identifier: CA2481224996

Gene: PKLR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155290987_155290993delinsCAAAATA , CM000663.2:g.155290987_155290993delinsCAAAATA	GRCh38
NC_000001.10:g.155260778_155260784delinsCAAAATA , CM000663.1:g.155260778_155260784delinsCAAAATA	GRCh37
NC_000001.9:g.153527402_153527408delinsCAAAATA	NCBI36
NG_011677.1:g.15442_15448delinsTATTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1619-315_1619-309delinsTATTTTG MANE Select	ENSP00000339933.4:n.1619-315_1619-309delinsTATTTTG
ENST00000342741.4:c.1619-315_1619-309delinsTATTTTG	ENSP00000339933.4:n.1619-315_1619-309delinsTATTTTG
ENST00000392414.7:c.1526-315_1526-309delinsTATTTTG	ENSP00000376214.3:n.1526-315_1526-309delinsTATTTTG
NM_000298.5:c.1619-315_1619-309delinsTATTTTG	NP_000289.1:n.1619-315_1619-309delinsTATTTTG
NM_181871.3:c.1526-315_1526-309delinsTATTTTG	NP_870986.1:n.1526-315_1526-309delinsTATTTTG
XM_005245266.3:c.1778-315_1778-309delinsTATTTTG	XP_005245323.1:n.1778-315_1778-309delinsTATTTTG
XM_006711386.2:c.1427-315_1427-309delinsTATTTTG	XP_006711449.1:n.1427-315_1427-309delinsTATTTTG
XM_011509640.1:c.1427-315_1427-309delinsTATTTTG	XP_011507942.1:n.1427-315_1427-309delinsTATTTTG
NM_000298.6:c.1619-315_1619-309delinsTATTTTG MANE Select	NP_000289.1:n.1619-315_1619-309delinsTATTTTG
XM_006711386.4:c.1427-315_1427-309delinsTATTTTG	XP_006711449.1:n.1427-315_1427-309delinsTATTTTG
XM_011509640.3:c.1427-315_1427-309delinsTATTTTG	XP_011507942.1:n.1427-315_1427-309delinsTATTTTG
NM_181871.4:c.1526-315_1526-309delinsTATTTTG	NP_870986.1:n.1526-315_1526-309delinsTATTTTG