Canonical Allele Identifier: CA2577323655

Gene: ITPA

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3213445_3213450del , CM000682.2:g.3213445_3213450del	GRCh38
NC_000020.10:g.3194091_3194096del , CM000682.1:g.3194091_3194096del	GRCh37
NC_000020.9:g.3142091_3142096del	NCBI36
NG_012093.1:g.9036_9041del
NG_012093.2:g.9579_9584del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380113.8:c.189+62_189+67del MANE Select	ENSP00000369456.3:n.189+62_189+67del
ENST00000380113.7:c.189+62_189+67del	ENSP00000369456.3:n.189+62_189+67del
ENST00000399838.3:c.67-540_67-535del	ENSP00000382732.3:n.67-540_67-535del
ENST00000455664.6:c.138+62_138+67del	ENSP00000413282.1:n.138+62_138+67del
ENST00000460550.5:n.163+219_163+224del
ENST00000460676.5:n.302+19_302+24del
ENST00000483354.5:n.224+219_224+224del
ENST00000490838.6:n.173+62_173+67del
ENST00000609835.5:n.243+62_243+67del
NM_001267623.1:c.67-540_67-535del	NP_001254552.1:n.67-540_67-535del
NM_033453.3:c.189+62_189+67del	NP_258412.1:n.189+62_189+67del
NM_181493.2:c.138+62_138+67del	NP_852470.1:n.138+62_138+67del
NR_052000.1:n.224+219_224+224del
NR_052001.1:n.174+62_174+67del
NR_052002.1:n.316+219_316+224del
XM_006723564.2:c.189+62_189+67del	XP_006723627.1:n.189+62_189+67del
XM_006723565.2:c.67-540_67-535del	XP_006723628.1:n.67-540_67-535del
XM_011529234.1:c.189+62_189+67del	XP_011527536.1:n.189+62_189+67del
XM_011529235.1:c.189+62_189+67del	XP_011527537.1:n.189+62_189+67del
NM_001324236.1:c.-149+62_-149+67del	NP_001311165.1:n.-149+62_-149+67del
NM_001324237.1:c.-149+62_-149+67del	NP_001311166.1:n.-149+62_-149+67del
NM_001324238.1:c.-149+62_-149+67del	NP_001311167.1:n.-149+62_-149+67del
NM_001324240.1:c.189+62_189+67del	NP_001311169.1:n.189+62_189+67del
NM_001351739.1:c.-149+62_-149+67del	NP_001338668.1:n.-149+62_-149+67del
NM_181493.3:c.138+62_138+67del	NP_852470.1:n.138+62_138+67del
XM_006723564.3:c.189+62_189+67del	XP_006723627.1:n.189+62_189+67del
XM_006723565.3:c.67-540_67-535del	XP_006723628.1:n.67-540_67-535del
XM_011529234.2:c.189+62_189+67del	XP_011527536.1:n.189+62_189+67del
XM_024451880.1:c.-688_-683del	XP_024307648.1:n.-688_-683del
NM_033453.4:c.189+62_189+67del MANE Select	NP_258412.1:n.189+62_189+67del
NM_001267623.2:c.67-540_67-535del	NP_001254552.1:n.67-540_67-535del
NM_001324236.2:c.-149+62_-149+67del	NP_001311165.1:n.-149+62_-149+67del
NM_001324237.2:c.-149+62_-149+67del	NP_001311166.1:n.-149+62_-149+67del
NM_001324238.2:c.-149+62_-149+67del	NP_001311167.1:n.-149+62_-149+67del
NM_001324240.2:c.189+62_189+67del	NP_001311169.1:n.189+62_189+67del
NM_001351739.2:c.-149+62_-149+67del	NP_001338668.1:n.-149+62_-149+67del
NM_181493.4:c.138+62_138+67del	NP_852470.1:n.138+62_138+67del
NR_052000.2:n.416+219_416+224del
NR_052002.2:n.178+219_178+224del