Canonical Allele Identifier: CA2558318483

Gene: PYROXD1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21449522_21449523insGAAAAGGT , CM000674.2:g.21449522_21449523insGAAAAGGT	GRCh38
NC_000012.11:g.21602456_21602457insGAAAAGGT , CM000674.1:g.21602456_21602457insGAAAAGGT	GRCh37
NC_000012.10:g.21493723_21493724insGAAAAGGT	NCBI36
NG_053196.1:g.16919_16920insGAAAAGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000240651.14:c.286-41_286-40insGAAAAGGT MANE Select	ENSP00000240651.9:n.286-41_286-40insGAAAAGGT
ENST00000240651.13:c.286-41_286-40insGAAAAGGT	ENSP00000240651.9:n.286-41_286-40insGAAAAGGT
ENST00000375266.8:c.*212-41_*212-40insGAAAAGGT	ENSP00000364415.4:n.*212-41_*212-40insGAAAAGGT
ENST00000538582.5:c.73-41_73-40insGAAAAGGT	ENSP00000438505.1:n.73-41_73-40insGAAAAGGT
ENST00000543476.5:c.286-41_286-40insGAAAAGGT	ENSP00000440192.1:n.286-41_286-40insGAAAAGGT
ENST00000544970.5:c.286-41_286-40insGAAAAGGT	ENSP00000439106.1:n.286-41_286-40insGAAAAGGT
NM_024854.3:c.286-41_286-40insGAAAAGGT	NP_079130.2:n.286-41_286-40insGAAAAGGT
XM_006719153.2:c.286-41_286-40insGAAAAGGT	XP_006719216.1:n.286-41_286-40insGAAAAGGT
XR_242902.3:n.413-41_413-40insGAAAAGGT
NM_001350912.1:c.73-41_73-40insGAAAAGGT	NP_001337841.1:n.73-41_73-40insGAAAAGGT
NM_001350913.1:c.-418-41_-418-40insGAAAAGGT	NP_001337842.1:n.-418-41_-418-40insGAAAAGGT
NM_024854.4:c.286-41_286-40insGAAAAGGT	NP_079130.2:n.286-41_286-40insGAAAAGGT
XM_006719153.3:c.286-41_286-40insGAAAAGGT	XP_006719216.1:n.286-41_286-40insGAAAAGGT
XR_242902.4:n.387-41_387-40insGAAAAGGT
NM_024854.5:c.286-41_286-40insGAAAAGGT MANE Select	NP_079130.2:n.286-41_286-40insGAAAAGGT
NM_001350913.2:c.-418-41_-418-40insGAAAAGGT	NP_001337842.1:n.-418-41_-418-40insGAAAAGGT
NM_001350912.2:c.73-41_73-40insGAAAAGGT	NP_001337841.1:n.73-41_73-40insGAAAAGGT