Canonical Allele Identifier: CA2346467566

Gene: ITPA

Linked Data

• dbSNP Id: rs2067222078

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3213540dup , CM000682.2:g.3213540dup	GRCh38
NC_000020.10:g.3194186dup , CM000682.1:g.3194186dup	GRCh37
NC_000020.9:g.3142186dup	NCBI36
NG_012093.1:g.9131dup
NG_012093.2:g.9674dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000380113.8:c.189+157dup MANE Select	ENSP00000369456.3:n.189+157dup
ENST00000380113.7:c.189+157dup	ENSP00000369456.3:n.189+157dup
ENST00000399838.3:c.67-445dup	ENSP00000382732.3:n.67-445dup
ENST00000455664.6:c.138+157dup	ENSP00000413282.1:n.138+157dup
ENST00000460550.5:n.163+314dup
ENST00000460676.5:n.302+114dup
ENST00000483354.5:n.224+314dup
ENST00000490838.6:n.173+157dup
ENST00000609835.5:n.243+157dup
NM_001267623.1:c.67-445dup	NP_001254552.1:n.67-445dup
NM_033453.3:c.189+157dup	NP_258412.1:n.189+157dup
NM_181493.2:c.138+157dup	NP_852470.1:n.138+157dup
NR_052000.1:n.224+314dup
NR_052001.1:n.174+157dup
NR_052002.1:n.316+314dup
XM_006723564.2:c.189+157dup	XP_006723627.1:n.189+157dup
XM_006723565.2:c.67-445dup	XP_006723628.1:n.67-445dup
XM_011529234.1:c.189+157dup	XP_011527536.1:n.189+157dup
XM_011529235.1:c.189+157dup	XP_011527537.1:n.189+157dup
NM_001324236.1:c.-149+157dup	NP_001311165.1:n.-149+157dup
NM_001324237.1:c.-149+157dup	NP_001311166.1:n.-149+157dup
NM_001324238.1:c.-149+157dup	NP_001311167.1:n.-149+157dup
NM_001324240.1:c.189+157dup	NP_001311169.1:n.189+157dup
NM_001351739.1:c.-149+157dup	NP_001338668.1:n.-149+157dup
NM_181493.3:c.138+157dup	NP_852470.1:n.138+157dup
XM_006723564.3:c.189+157dup	XP_006723627.1:n.189+157dup
XM_006723565.3:c.67-445dup	XP_006723628.1:n.67-445dup
XM_011529234.2:c.189+157dup	XP_011527536.1:n.189+157dup
XM_024451880.1:c.-593dup	XP_024307648.1:n.-593dup
NM_033453.4:c.189+157dup MANE Select	NP_258412.1:n.189+157dup
NM_001267623.2:c.67-445dup	NP_001254552.1:n.67-445dup
NM_001324236.2:c.-149+157dup	NP_001311165.1:n.-149+157dup
NM_001324237.2:c.-149+157dup	NP_001311166.1:n.-149+157dup
NM_001324238.2:c.-149+157dup	NP_001311167.1:n.-149+157dup
NM_001324240.2:c.189+157dup	NP_001311169.1:n.189+157dup
NM_001351739.2:c.-149+157dup	NP_001338668.1:n.-149+157dup
NM_181493.4:c.138+157dup	NP_852470.1:n.138+157dup
NR_052000.2:n.416+314dup
NR_052002.2:n.178+314dup