Canonical Allele Identifier: CA295134319

Gene: PYCR1

Linked Data

• dbSNP Id: rs1000962824
• gnomAD v2: 17-79891049-GAA-G
• gnomAD v3: 17-81933173-GAA-G
• gnomAD v4: 17-81933173-GAA-G
• MyVariant Identifiers: chr17:g.79891050_79891051del (hg19) ; chr17:g.81933174_81933175del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81933174_81933175del , CM000679.2:g.81933174_81933175del	GRCh38
NC_000017.10:g.79891050_79891051del , CM000679.1:g.79891050_79891051del	GRCh37
NC_000017.9:g.77484341_77484342del	NCBI36
NG_023032.1:g.8918_8919del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329875.13:c.*39_*40del MANE Select	ENSP00000328858.8:n.*39_*40del
ENST00000329875.12:c.*39_*40del	ENSP00000328858.8:n.*39_*40del
ENST00000337943.9:c.867+132_867+133del	ENSP00000336579.5:n.867+132_867+133del
ENST00000402252.6:c.*39_*40del	ENSP00000384949.2:n.*39_*40del
ENST00000403172.8:c.*39_*40del	ENSP00000385483.4:n.*39_*40del
ENST00000577756.5:c.*181_*182del	ENSP00000463352.1:n.*181_*182del
ENST00000584848.5:c.703_704del	ENSP00000463342.1:n.703_704del
ENST00000619204.4:c.*39_*40del	ENSP00000479793.1:n.*39_*40del
ENST00000629768.2:c.*181_*182del	ENSP00000485679.1:n.*181_*182del
NM_001282279.1:c.*39_*40del	NP_001269208.1:n.*39_*40del
NM_001282280.1:c.*39_*40del	NP_001269209.1:n.*39_*40del
NM_001282281.1:c.*39_*40del	NP_001269210.1:n.*39_*40del
NM_006907.3:c.*39_*40del	NP_008838.2:n.*39_*40del
NM_153824.2:c.867+132_867+133del	NP_722546.1:n.867+132_867+133del
XM_005256381.1:c.*39_*40del	XP_005256438.1:n.*39_*40del
XM_011523583.1:c.*39_*40del	XP_011521885.1:n.*39_*40del
XM_011523584.1:c.*39_*40del	XP_011521886.1:n.*39_*40del
XM_011523585.1:c.*181_*182del	XP_011521887.1:n.*181_*182del
NM_001330523.1:c.*181_*182del	NP_001317452.1:n.*181_*182del
XM_005256381.2:c.*39_*40del	XP_005256438.1:n.*39_*40del
XM_011523583.2:c.*39_*40del	XP_011521885.1:n.*39_*40del
XM_011523584.3:c.*39_*40del	XP_011521886.1:n.*39_*40del
XM_011523585.2:c.*181_*182del	XP_011521887.1:n.*181_*182del
XM_024450849.1:c.*39_*40del	XP_024306617.1:n.*39_*40del
NM_001282279.2:c.*39_*40del	NP_001269208.1:n.*39_*40del
NM_001282281.2:c.*39_*40del	NP_001269210.1:n.*39_*40del
NM_006907.4:c.*39_*40del MANE Select	NP_008838.2:n.*39_*40del
NM_153824.3:c.867+132_867+133del	NP_722546.1:n.867+132_867+133del
NM_001282280.2:c.*39_*40del	NP_001269209.1:n.*39_*40del
NM_001330523.2:c.*181_*182del	NP_001317452.1:n.*181_*182del