Canonical Allele Identifier: CA2617908451

Gene: PYROXD1

Linked Data

• gnomAD v4: 12-21449692-GTAACATTTTAAGGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21449694_21449707del , CM000674.2:g.21449694_21449707del	GRCh38
NC_000012.11:g.21602628_21602641del , CM000674.1:g.21602628_21602641del	GRCh37
NC_000012.10:g.21493895_21493908del	NCBI36
NG_053196.1:g.17091_17104del

Transcript Alleles

HGVS	Amino-acid change
ENST00000240651.14:c.414+3_414+16del MANE Select	ENSP00000240651.9:n.414+3_414+16del
ENST00000240651.13:c.414+3_414+16del	ENSP00000240651.9:n.414+3_414+16del
ENST00000375266.8:c.*340+3_*340+16del	ENSP00000364415.4:n.*340+3_*340+16del
ENST00000538582.5:c.201+3_201+16del	ENSP00000438505.1:n.201+3_201+16del
ENST00000543476.5:c.414+3_414+16del	ENSP00000440192.1:n.414+3_414+16del
ENST00000544970.5:c.414+3_414+16del	ENSP00000439106.1:n.414+3_414+16del
NM_024854.3:c.414+3_414+16del	NP_079130.2:n.414+3_414+16del
XM_006719153.2:c.414+3_414+16del	XP_006719216.1:n.414+3_414+16del
XR_242902.3:n.541+3_541+16del
NM_001350912.1:c.201+3_201+16del	NP_001337841.1:n.201+3_201+16del
NM_001350913.1:c.-290+3_-290+16del	NP_001337842.1:n.-290+3_-290+16del
NM_024854.4:c.414+3_414+16del	NP_079130.2:n.414+3_414+16del
XM_006719153.3:c.414+3_414+16del	XP_006719216.1:n.414+3_414+16del
XR_242902.4:n.515+3_515+16del
NM_024854.5:c.414+3_414+16del MANE Select	NP_079130.2:n.414+3_414+16del
NM_001350913.2:c.-290+3_-290+16del	NP_001337842.1:n.-290+3_-290+16del
NM_001350912.2:c.201+3_201+16del	NP_001337841.1:n.201+3_201+16del