Canonical Allele Identifier: CA2526980166

Gene: PYCR1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81933280_81933282del , CM000679.2:g.81933280_81933282del	GRCh38
NC_000017.10:g.79891156_79891158del , CM000679.1:g.79891156_79891158del	GRCh37
NC_000017.9:g.77484447_77484449del	NCBI36
NG_023032.1:g.8811_8813del

Transcript Alleles

HGVS	Amino-acid change
ENST00000329875.13:c.892_894del MANE Select	ENSP00000328858.8:p.Thr298del
ENST00000329875.12:c.892_894del	ENSP00000328858.8:p.Thr298del
ENST00000337943.9:c.867+25_867+27del	ENSP00000336579.5:n.867+25_867+27del
ENST00000402252.6:c.973_975del	ENSP00000384949.2:p.Thr325del
ENST00000403172.8:c.799_801del	ENSP00000385483.4:p.Thr267del
ENST00000577756.5:c.*74_*76del	ENSP00000463352.1:n.*74_*76del
ENST00000584848.5:c.596_598del	ENSP00000463342.1:n.596_598del
ENST00000619204.4:c.892_894del	ENSP00000479793.1:p.Thr298del
ENST00000629768.2:c.*74_*76del	ENSP00000485679.1:n.*74_*76del
NM_001282279.1:c.799_801del	NP_001269208.1:p.Thr267del
NM_001282280.1:c.892_894del	NP_001269209.1:p.Thr298del
NM_001282281.1:c.973_975del	NP_001269210.1:p.Thr325del
NM_006907.3:c.892_894del	NP_008838.2:p.Thr298del
NM_153824.2:c.867+25_867+27del	NP_722546.1:n.867+25_867+27del
XM_005256381.1:c.892_894del	XP_005256438.1:p.Thr298del
XM_011523583.1:c.892_894del	XP_011521885.1:p.Thr298del
XM_011523584.1:c.892_894del	XP_011521886.1:p.Thr298del
XM_011523585.1:c.*74_*76del	XP_011521887.1:n.*74_*76del
NM_001330523.1:c.*74_*76del	NP_001317452.1:n.*74_*76del
XM_005256381.2:c.892_894del	XP_005256438.1:p.Thr298del
XM_011523583.2:c.892_894del	XP_011521885.1:p.Thr298del
XM_011523584.3:c.892_894del	XP_011521886.1:p.Thr298del
XM_011523585.2:c.*74_*76del	XP_011521887.1:n.*74_*76del
XM_024450849.1:c.892_894del	XP_024306617.1:p.Thr298del
NM_001282279.2:c.799_801del	NP_001269208.1:p.Thr267del
NM_001282281.2:c.973_975del	NP_001269210.1:p.Thr325del
NM_006907.4:c.892_894del MANE Select	NP_008838.2:p.Thr298del
NM_153824.3:c.867+25_867+27del	NP_722546.1:n.867+25_867+27del
NM_001282280.2:c.892_894del	NP_001269209.1:p.Thr298del
NM_001330523.2:c.*74_*76del	NP_001317452.1:n.*74_*76del