Canonical Allele Identifier: CA2640545315

Gene: PYCR1

Linked Data

• gnomAD v4: 17-81932985-GAAGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81932989_81932992del , CM000679.2:g.81932989_81932992del	GRCh38
NC_000017.10:g.79890865_79890868del , CM000679.1:g.79890865_79890868del	GRCh37
NC_000017.9:g.77484156_77484159del	NCBI36
NG_023032.1:g.9104_9107del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329875.13:c.*225_*228del MANE Select	ENSP00000328858.8:n.*225_*228del
ENST00000329875.12:c.*225_*228del	ENSP00000328858.8:n.*225_*228del
ENST00000337943.9:c.868-26_868-23del	ENSP00000336579.5:n.868-26_868-23del
ENST00000402252.6:c.*225_*228del	ENSP00000384949.2:n.*225_*228del
ENST00000403172.8:c.*225_*228del	ENSP00000385483.4:n.*225_*228del
ENST00000577756.5:c.*367_*370del	ENSP00000463352.1:n.*367_*370del
ENST00000584848.5:c.889_892del	ENSP00000463342.1:n.889_892del
ENST00000619204.4:c.*225_*228del	ENSP00000479793.1:n.*225_*228del
ENST00000629768.2:c.*367_*370del	ENSP00000485679.1:n.*367_*370del
NM_001282279.1:c.*225_*228del	NP_001269208.1:n.*225_*228del
NM_001282280.1:c.*225_*228del	NP_001269209.1:n.*225_*228del
NM_001282281.1:c.*225_*228del	NP_001269210.1:n.*225_*228del
NM_006907.3:c.*225_*228del	NP_008838.2:n.*225_*228del
NM_153824.2:c.868-26_868-23del	NP_722546.1:n.868-26_868-23del
XM_005256381.1:c.*225_*228del	XP_005256438.1:n.*225_*228del
XM_011523583.1:c.*225_*228del	XP_011521885.1:n.*225_*228del
XM_011523584.1:c.*225_*228del	XP_011521886.1:n.*225_*228del
XM_011523585.1:c.*367_*370del	XP_011521887.1:n.*367_*370del
NM_001330523.1:c.*367_*370del	NP_001317452.1:n.*367_*370del
XM_005256381.2:c.*225_*228del	XP_005256438.1:n.*225_*228del
XM_011523583.2:c.*225_*228del	XP_011521885.1:n.*225_*228del
XM_011523584.3:c.*225_*228del	XP_011521886.1:n.*225_*228del
XM_011523585.2:c.*367_*370del	XP_011521887.1:n.*367_*370del
XM_024450849.1:c.*225_*228del	XP_024306617.1:n.*225_*228del
NM_001282279.2:c.*225_*228del	NP_001269208.1:n.*225_*228del
NM_001282281.2:c.*225_*228del	NP_001269210.1:n.*225_*228del
NM_006907.4:c.*225_*228del MANE Select	NP_008838.2:n.*225_*228del
NM_153824.3:c.868-26_868-23del	NP_722546.1:n.868-26_868-23del
NM_001282280.2:c.*225_*228del	NP_001269209.1:n.*225_*228del
NM_001330523.2:c.*367_*370del	NP_001317452.1:n.*367_*370del