Canonical Allele Identifier: CA2576428585

Gene: PYCR1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81933250_81933272del , CM000679.2:g.81933250_81933272del	GRCh38
NC_000017.10:g.79891126_79891148del , CM000679.1:g.79891126_79891148del	GRCh37

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329875.13:c.903_925del MANE Select	ENSP00000328858.8:p.Ser303ProfsTer15
ENST00000329875.12:c.903_925del	ENSP00000328858.8:p.Ser303ProfsTer15
ENST00000337943.9:c.867+36_867+58del	ENSP00000336579.5:n.867+36_867+58del
ENST00000402252.6:c.984_1006del	ENSP00000384949.2:p.Ser330ProfsTer15
ENST00000403172.8:c.810_832del	ENSP00000385483.4:p.Ser272ProfsTer15
ENST00000577756.5:c.*85_*107del	ENSP00000463352.1:n.*85_*107del
ENST00000584848.5:c.607_629del	ENSP00000463342.1:n.607_629del
ENST00000619204.4:c.903_925del	ENSP00000479793.1:p.Ser303ProfsTer15
ENST00000629768.2:c.*85_*107del	ENSP00000485679.1:n.*85_*107del
NM_153824.2:c.867+36_867+58del	NP_722546.1:n.867+36_867+58del
XM_005256381.1:c.903_925del	XP_005256438.1:p.Ser303ProfsTer15
XM_011523583.1:c.903_925del	XP_011521885.1:p.Ser303ProfsTer15
XM_011523584.1:c.903_925del	XP_011521886.1:p.Ser303ProfsTer15
XM_011523585.1:c.*85_*107del	XP_011521887.1:n.*85_*107del
XM_005256381.2:c.903_925del	XP_005256438.1:p.Ser303ProfsTer15
XM_011523583.2:c.903_925del	XP_011521885.1:p.Ser303ProfsTer15
XM_011523584.3:c.903_925del	XP_011521886.1:p.Ser303ProfsTer15
XM_011523585.2:c.*85_*107del	XP_011521887.1:n.*85_*107del
XM_024450849.1:c.903_925del	XP_024306617.1:p.Ser303ProfsTer15
NM_001282279.2:c.810_832del	NP_001269208.1:p.Ser272ProfsTer15
NM_001282281.2:c.984_1006del	NP_001269210.1:p.Ser330ProfsTer15
NM_006907.4:c.903_925del MANE Select	NP_008838.2:p.Ser303ProfsTer15
NM_153824.3:c.867+36_867+58del	NP_722546.1:n.867+36_867+58del
NM_001282280.2:c.903_925del	NP_001269209.1:p.Ser303ProfsTer15
NM_001330523.2:c.*85_*107del	NP_001317452.1:n.*85_*107del