Canonical Allele Identifier: CA2651688189

Gene: ITPA

Linked Data

• gnomAD v4: 20-3213505-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3213508_3213509del , CM000682.2:g.3213508_3213509del	GRCh38
NC_000020.10:g.3194154_3194155del , CM000682.1:g.3194154_3194155del	GRCh37
NC_000020.9:g.3142154_3142155del	NCBI36
NG_012093.1:g.9099_9100del
NG_012093.2:g.9642_9643del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380113.8:c.189+125_189+126del MANE Select	ENSP00000369456.3:n.189+125_189+126del
ENST00000380113.7:c.189+125_189+126del	ENSP00000369456.3:n.189+125_189+126del
ENST00000399838.3:c.67-477_67-476del	ENSP00000382732.3:n.67-477_67-476del
ENST00000455664.6:c.138+125_138+126del	ENSP00000413282.1:n.138+125_138+126del
ENST00000460550.5:n.163+282_163+283del
ENST00000460676.5:n.302+82_302+83del
ENST00000483354.5:n.224+282_224+283del
ENST00000490838.6:n.173+125_173+126del
ENST00000609835.5:n.243+125_243+126del
NM_001267623.1:c.67-477_67-476del	NP_001254552.1:n.67-477_67-476del
NM_033453.3:c.189+125_189+126del	NP_258412.1:n.189+125_189+126del
NM_181493.2:c.138+125_138+126del	NP_852470.1:n.138+125_138+126del
NR_052000.1:n.224+282_224+283del
NR_052001.1:n.174+125_174+126del
NR_052002.1:n.316+282_316+283del
XM_006723564.2:c.189+125_189+126del	XP_006723627.1:n.189+125_189+126del
XM_006723565.2:c.67-477_67-476del	XP_006723628.1:n.67-477_67-476del
XM_011529234.1:c.189+125_189+126del	XP_011527536.1:n.189+125_189+126del
XM_011529235.1:c.189+125_189+126del	XP_011527537.1:n.189+125_189+126del
NM_001324236.1:c.-149+125_-149+126del	NP_001311165.1:n.-149+125_-149+126del
NM_001324237.1:c.-149+125_-149+126del	NP_001311166.1:n.-149+125_-149+126del
NM_001324238.1:c.-149+125_-149+126del	NP_001311167.1:n.-149+125_-149+126del
NM_001324240.1:c.189+125_189+126del	NP_001311169.1:n.189+125_189+126del
NM_001351739.1:c.-149+125_-149+126del	NP_001338668.1:n.-149+125_-149+126del
NM_181493.3:c.138+125_138+126del	NP_852470.1:n.138+125_138+126del
XM_006723564.3:c.189+125_189+126del	XP_006723627.1:n.189+125_189+126del
XM_006723565.3:c.67-477_67-476del	XP_006723628.1:n.67-477_67-476del
XM_011529234.2:c.189+125_189+126del	XP_011527536.1:n.189+125_189+126del
XM_024451880.1:c.-625_-624del	XP_024307648.1:n.-625_-624del
NM_033453.4:c.189+125_189+126del MANE Select	NP_258412.1:n.189+125_189+126del
NM_001267623.2:c.67-477_67-476del	NP_001254552.1:n.67-477_67-476del
NM_001324236.2:c.-149+125_-149+126del	NP_001311165.1:n.-149+125_-149+126del
NM_001324237.2:c.-149+125_-149+126del	NP_001311166.1:n.-149+125_-149+126del
NM_001324238.2:c.-149+125_-149+126del	NP_001311167.1:n.-149+125_-149+126del
NM_001324240.2:c.189+125_189+126del	NP_001311169.1:n.189+125_189+126del
NM_001351739.2:c.-149+125_-149+126del	NP_001338668.1:n.-149+125_-149+126del
NM_181493.4:c.138+125_138+126del	NP_852470.1:n.138+125_138+126del
NR_052000.2:n.416+282_416+283del
NR_052002.2:n.178+282_178+283del