Canonical Allele Identifier: CA775689880

Gene: PYCR1

Linked Data

• dbSNP Id: rs1432972343
• gnomAD v3: 17-81932898-CAGCTGAT-C
• gnomAD v4: 17-81932898-CAGCTGAT-C
• MyVariant Identifiers: chr17:g.79890775_79890781del (hg19) ; chr17:g.81932899_81932905del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81932900_81932906del , CM000679.2:g.81932900_81932906del	GRCh38
NC_000017.10:g.79890776_79890782del , CM000679.1:g.79890776_79890782del	GRCh37
NC_000017.9:g.77484067_77484073del	NCBI36
NG_023032.1:g.9188_9194del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329875.13:c.*309_*315del MANE Select	ENSP00000328858.8:n.*309_*315del
ENST00000329875.12:c.*309_*315del	ENSP00000328858.8:n.*309_*315del
ENST00000337943.9:c.926_932del	ENSP00000336579.5:p.Tyr309TrpfsTer16
ENST00000403172.8:c.*309_*315del	ENSP00000385483.4:n.*309_*315del
ENST00000619204.4:c.*309_*315del	ENSP00000479793.1:n.*309_*315del
ENST00000629768.2:c.*451_*457del	ENSP00000485679.1:n.*451_*457del
NM_001282279.1:c.*309_*315del	NP_001269208.1:n.*309_*315del
NM_001282280.1:c.*309_*315del	NP_001269209.1:n.*309_*315del
NM_001282281.1:c.*309_*315del	NP_001269210.1:n.*309_*315del
NM_006907.3:c.*309_*315del	NP_008838.2:n.*309_*315del
NM_153824.2:c.926_932del	NP_722546.1:p.Tyr309TrpfsTer16
XM_005256381.1:c.*309_*315del	XP_005256438.1:n.*309_*315del
XM_011523583.1:c.*309_*315del	XP_011521885.1:n.*309_*315del
XM_011523584.1:c.*309_*315del	XP_011521886.1:n.*309_*315del
XM_011523585.1:c.*451_*457del	XP_011521887.1:n.*451_*457del
NM_001330523.1:c.*451_*457del	NP_001317452.1:n.*451_*457del
XM_005256381.2:c.*309_*315del	XP_005256438.1:n.*309_*315del
XM_011523583.2:c.*309_*315del	XP_011521885.1:n.*309_*315del
XM_011523584.3:c.*309_*315del	XP_011521886.1:n.*309_*315del
XM_011523585.2:c.*451_*457del	XP_011521887.1:n.*451_*457del
XM_024450849.1:c.*309_*315del	XP_024306617.1:n.*309_*315del
NM_001282279.2:c.*309_*315del	NP_001269208.1:n.*309_*315del
NM_001282281.2:c.*309_*315del	NP_001269210.1:n.*309_*315del
NM_006907.4:c.*309_*315del MANE Select	NP_008838.2:n.*309_*315del
NM_153824.3:c.926_932del	NP_722546.1:p.Tyr309TrpfsTer16
NM_001282280.2:c.*309_*315del	NP_001269209.1:n.*309_*315del
NM_001330523.2:c.*451_*457del	NP_001317452.1:n.*451_*457del